potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3) - coding DNA reference sequence

(used for variant description)

(last modified September 5, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_002249.5 in the KCNN3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016807.2, covering KCNN3 transcript NM_002249.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5014
                                               gagccagcgaggag       c.-301

 .         .         .         .         .         .                g.5074
 tgaagctgagcctggcctcacacgctcctagaggaccacctcctgagagagttctttcac       c.-241

 .         .         .         .         .         .                g.5134
 cccctcttctttctccaagctcccctcctgctctccctccctgcccaatacaatgcattc       c.-181

 .         .         .         .         .         .                g.5194
 ttgagtggcagcgtctggactccaggcagccccagagaaccgaagcaagccaaagagagg       c.-121

 .         .         .         .         .         .                g.5254
 actggagccaagatactggtgggggagattggatgcctggctttctttgaggacatcttt       c.-61

 .         .         .         .         .         .                g.5314
 ggagcgagggtggctttggggtgggggcttgtgctgcagggaatacagccaggccccaag       c.-1

          .         .         .         .         .         .       g.5374
 ATGGACACTTCTGGGCACTTCCATGACTCGGGGGTGGGGGACTTGGATGAAGACCCCAAG       c.60
 M  D  T  S  G  H  F  H  D  S  G  V  G  D  L  D  E  D  P  K         p.20

          .         .         .         .         .         .       g.5434
 TGCCCCTGTCCATCCTCTGGGGATGAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAG       c.120
 C  P  C  P  S  S  G  D  E  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q         p.40

          .         .         .         .         .         .       g.5494
 CAGCCACCACCGCCAGCGCCACCAGCAGCCCCCCAGCAGCCCCTGGGACCCTCGCTGCAG       c.180
 Q  P  P  P  P  A  P  P  A  A  P  Q  Q  P  L  G  P  S  L  Q         p.60

          .         .         .         .         .         .       g.5554
 CCTCAGCCTCCGCAGCTTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG       c.240
 P  Q  P  P  Q  L  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q         p.80

          .         .         .         .         .         .       g.5614
 CCACCGCATCCCCTGTCTCAGCTCGCCCAACTCCAGAGCCAGCCCGTCCACCCTGGCCTG       c.300
 P  P  H  P  L  S  Q  L  A  Q  L  Q  S  Q  P  V  H  P  G  L         p.100

          .         .         .         .         .         .       g.5674
 CTGCACTCCTCTCCCACCGCTTTCAGGGCCCCCCCTTCGTCCAACTCCACCGCCATCCTC       c.360
 L  H  S  S  P  T  A  F  R  A  P  P  S  S  N  S  T  A  I  L         p.120

          .         .         .         .         .         .       g.5734
 CACCCTTCCTCCAGGCAAGGCAGCCAGCTCAATCTCAATGACCACTTGCTTGGCCACTCT       c.420
 H  P  S  S  R  Q  G  S  Q  L  N  L  N  D  H  L  L  G  H  S         p.140

          .         .         .         .         .         .       g.5794
 CCAAGTTCCACAGCTACAAGTGGGCCTGGCGGAGGCAGCCGGCACCGACAGGCCAGCCCC       c.480
 P  S  S  T  A  T  S  G  P  G  G  G  S  R  H  R  Q  A  S  P         p.160

          .         .         .         .         .         .       g.5854
 CTGGTGCACCGGCGGGACAGCAACCCCTTCACGGAGATCGCCATGAGCTCCTGCAAGTAT       c.540
 L  V  H  R  R  D  S  N  P  F  T  E  I  A  M  S  S  C  K  Y         p.180

          .         .         .         .         .         .       g.5914
 AGCGGTGGGGTCATGAAGCCCCTCAGCCGCCTCAGCGCCTCCCGGAGGAACCTCATCGAG       c.600
 S  G  G  V  M  K  P  L  S  R  L  S  A  S  R  R  N  L  I  E         p.200

          .         .         .         .         .         .       g.5974
 GCCGAGACTGAGGGCCAACCCCTCCAGCTTTTCAGCCCTAGCAACCCCCCGGAGATCGTC       c.660
 A  E  T  E  G  Q  P  L  Q  L  F  S  P  S  N  P  P  E  I  V         p.220

          .         .         .         .         .         .       g.6034
 ATCTCCTCCCGGGAGGACAACCATGCCCACCAGACCCTGCTCCATCACCCTAATGCCACC       c.720
 I  S  S  R  E  D  N  H  A  H  Q  T  L  L  H  H  P  N  A  T         p.240

          .         .         .         .         .         .       g.6094
 CACAACCACCAGCATGCCGGCACCACCGCCAGCAGCACCACCTTCCCCAAAGCCAACAAG       c.780
 H  N  H  Q  H  A  G  T  T  A  S  S  T  T  F  P  K  A  N  K         p.260

          .         .         .         .         .         .       g.6154
 CGGAAAAACCAAAACATTGGCTATAAGCTGGGACACAGGAGGGCCCTGTTTGAAAAGAGA       c.840
 R  K  N  Q  N  I  G  Y  K  L  G  H  R  R  A  L  F  E  K  R         p.280

          .         .         .         .         .         .       g.6214
 AAGCGACTGAGTGACTATGCTCTGATTTTTGGGATGTTTGGAATTGTTGTTATGGTGATA       c.900
 K  R  L  S  D  Y  A  L  I  F  G  M  F  G  I  V  V  M  V  I         p.300

          .         .         .    | 02    .         .         .    g.53121
 GAGACCGAGCTCTCTTGGGGTTTGTACTCAAAG | GACTCCATGTTTTCGTTGGCCCTGAAA    c.960
 E  T  E  L  S  W  G  L  Y  S  K   | D  S  M  F  S  L  A  L  K      p.320

          .         .         .         .         .         .       g.53181
 TGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGT       c.1020
 C  L  I  S  L  S  T  I  I  L  L  G  L  I  I  A  Y  H  T  R         p.340

           | 03        .         .         .         .         .    g.102936
 GAAGTCCAG | CTCTTCGTGATCGACAATGGCGCGGATGACTGGCGGATAGCCATGACCTAC    c.1080
 E  V  Q   | L  F  V  I  D  N  G  A  D  D  W  R  I  A  M  T  Y      p.360

          .         .         .         .         .         .       g.102996
 GAGCGCATCCTGTACATCAGCCTGGAGATGCTGGTGTGCGCCATCCACCCCATTCCTGGC       c.1140
 E  R  I  L  Y  I  S  L  E  M  L  V  C  A  I  H  P  I  P  G         p.380

          .         .         .         .         .         .       g.103056
 GAGTACAAGTTCTTCTGGACGGCACGCCTGGCCTTCTCCTACACACCCTCCCGGGCGGAG       c.1200
 E  Y  K  F  F  W  T  A  R  L  A  F  S  Y  T  P  S  R  A  E         p.400

          .         .         .         .         .         .       g.103116
 GCCGATGTGGACATCATCCTGTCTATCCCCATGTTCCTGCGCCTGTACCTGATCGCCCGA       c.1260
 A  D  V  D  I  I  L  S  I  P  M  F  L  R  L  Y  L  I  A  R         p.420

          .         .         .         .         .         .       g.103176
 GTCATGCTGCTGCACAGCAAGCTCTTCACCGATGCCTCGTCCCGCAGCATCGGGGCCCTC       c.1320
 V  M  L  L  H  S  K  L  F  T  D  A  S  S  R  S  I  G  A  L         p.440

          .         .         .         .         .         .       g.103236
 AACAAGATCAACTTCAACACCCGCTTTGTCATGAAGACGCTCATGACCATCTGCCCTGGC       c.1380
 N  K  I  N  F  N  T  R  F  V  M  K  T  L  M  T  I  C  P  G         p.460

          .         .         .         .         .         .       g.103296
 ACTGTGCTGCTCGTGTTCAGCATCTCTCTGTGGATCATTGCTGCCTGGACCGTCCGTGTC       c.1440
 T  V  L  L  V  F  S  I  S  L  W  I  I  A  A  W  T  V  R  V         p.480

          | 04         .         .         .         .         .    g.142186
 TGTGAAAG | GTACCATGACCAGCAGGACGTAACTAGTAACTTTCTGGGTGCCATGTGGCTC    c.1500
 C  E  R  |  Y  H  D  Q  Q  D  V  T  S  N  F  L  G  A  M  W  L      p.500

          .         .         .         .         .         .       g.142246
 ATCTCCATCACATTCCTTTCCATTGGTTATGGGGACATGGTGCCCCACACATACTGTGGG       c.1560
 I  S  I  T  F  L  S  I  G  Y  G  D  M  V  P  H  T  Y  C  G         p.520

          .         .         . | 05       .         .         .    g.149282
 AAAGGTGTCTGTCTCCTCACTGGCATCATG | GGTGCAGGCTGCACTGCCCTTGTGGTGGCC    c.1620
 K  G  V  C  L  L  T  G  I  M   | G  A  G  C  T  A  L  V  V  A      p.540

          .         .         .         .         .         .       g.149342
 GTGGTGGCCCGAAAGCTGGAACTCACCAAAGCGGAGAAGCACGTTCATAACTTCATGATG       c.1680
 V  V  A  R  K  L  E  L  T  K  A  E  K  H  V  H  N  F  M  M         p.560

          .         .  | 06      .         .         .         .    g.160314
 GACACTCAGCTCACCAAGCGG | ATCAAGAATGCTGCAGCCAATGTCCTTCGGGAAACATGG    c.1740
 D  T  Q  L  T  K  R   | I  K  N  A  A  A  N  V  L  R  E  T  W      p.580

          .         .         .         .         .         .       g.160374
 TTAATCTATAAACACACAAAGCTGCTAAAGAAGATTGACCATGCCAAAGTGAGGAAACAC       c.1800
 L  I  Y  K  H  T  K  L  L  K  K  I  D  H  A  K  V  R  K  H         p.600

          .         .          | 07        .         .         .    g.161776
 CAGAGGAAGTTCCTCCAAGCTATCCACCA | GTTGAGGAGCGTCAAGATGGAACAGAGGAAG    c.1860
 Q  R  K  F  L  Q  A  I  H  Q  |  L  R  S  V  K  M  E  Q  R  K      p.620

          .         .         .          | 08        .         .    g.167027
 CTGAGTGACCAAGCCAACACTCTGGTGGACCTTTCCAAG | ATGCAGAATGTCATGTATGAC    c.1920
 L  S  D  Q  A  N  T  L  V  D  L  S  K   | M  Q  N  V  M  Y  D      p.640

          .         .         .         .         .         .       g.167087
 TTAATCACAGAACTCAATGACCGGAGCGAAGACCTGGAGAAGCAGATTGGCAGCCTGGAG       c.1980
 L  I  T  E  L  N  D  R  S  E  D  L  E  K  Q  I  G  S  L  E         p.660

          .         .         .         .         .         .       g.167147
 TCGAAGCTGGAGCATCTCACCGCCAGCTTCAACTCCCTGCCGCTGCTCATCGCCGACACC       c.2040
 S  K  L  E  H  L  T  A  S  F  N  S  L  P  L  L  I  A  D  T         p.680

          .         .         .         .         .         .       g.167207
 CTGCGCCAGCAGCAGCAGCAGCTCCTGTCTGCCATCATCGAGGCCCGGGGTGTCAGCGTG       c.2100
 L  R  Q  Q  Q  Q  Q  L  L  S  A  I  I  E  A  R  G  V  S  V         p.700

          .         .         .         .         .         .       g.167267
 GCAGTGGGCACCACCCACACCCCAATCTCCGATAGCCCCATTGGGGTCAGCTCCACCTCC       c.2160
 A  V  G  T  T  H  T  P  I  S  D  S  P  I  G  V  S  S  T  S         p.720

          .         .         .                                     g.167303
 TTCCCGACCCCGTACACAAGTTCAAGCAGTTGCTAA                               c.2196
 F  P  T  P  Y  T  S  S  S  S  C  X                                 p.731

          .         .         .         .         .         .       g.167363
 ataaatctccccactccagaagcattacccataggtcttaagatgcaaatcaactctctc       c.*60

          .         .         .         .         .         .       g.167423
 ctggtcgctttgccatcaagaaacattcagaccagggaacggaaagaagagagaccgagc       c.*120

          .         .         .         .         .         .       g.167483
 taattaactaactcatgttcattcagcgtgcttggtccgacatgccttgaaaccagaaat       c.*180

          .         .         .         .         .         .       g.167543
 ctaatctctgtttaggtgcctctacttgggagcgggaagaggagatgacaggaagcgacg       c.*240

          .         .         .         .         .         .       g.167603
 cctctggcagggcccttgctgcagagttggtggagaacagaaatccacgctcaatctcag       c.*300

          .         .         .         .         .         .       g.167663
 gtcttcacgcggggggtgggggtcagatgcactgaagtagccaacagcgaagccagtcca       c.*360

          .         .         .         .         .         .       g.167723
 gaagaggggtccgctgggagggagggttgtgtcaggcttgggggatgggctcttcgccat       c.*420

          .         .         .         .         .         .       g.167783
 gggggtctttgaacacacctctctcctttccttttgtctacggaagcctctgggtgacaa       c.*480

          .         .         .         .         .         .       g.167843
 aagtaaaagagagctgcccacaacttgccaaaacagatatactcgaatcagactgaaaaa       c.*540

          .         .         .         .         .         .       g.167903
 aaaaaaaaaagacacagacaaataaaaagccagattttccactcgatattaatacccaca       c.*600

          .         .         .         .         .         .       g.167963
 taaacctgtgtgtttgcaaacgtgtacatgtacacacatacacatcccacgttcgcttca       c.*660

          .         .         .         .         .         .       g.168023
 ggtcctttcttatttgagcttaatccaaataaaaagggacttgacaccttaccctgcata       c.*720

          .         .         .         .         .         .       g.168083
 caataggcaccccttacatgtgttttgagttggtctgaatctgaacatggggtgctttca       c.*780

          .         .         .         .         .         .       g.168143
 gttcaggtagttagctagttctggccacattctgagtttcactgaagatgtggatccctt       c.*840

          .         .         .         .         .         .       g.168203
 cagacataatgcacattgctttgtcctggatatgcaccttgcttgatttgaaatggatgc       c.*900

          .         .         .         .         .         .       g.168263
 caagccaaaattgttggcattcaggagggataagcaggcttctaaaaataacagcatctg       c.*960

          .         .         .         .         .         .       g.168323
 cagagttttcttcttccatccaaacaagttgtgtttcgatggtccacatgaccaggtgta       c.*1020

          .         .         .         .         .         .       g.168383
 tgtctgtaagtgtggagggagaggacaagaaattgtgcatgtgtgtgcagacatgcacaa       c.*1080

          .         .         .         .         .         .       g.168443
 acaggagcaatccaataacaccttagtgaatagaaatatggttggggatttgctgagctg       c.*1140

          .         .         .         .         .         .       g.168503
 tatttatccagcaacaggtttccagccccagatgttagtagtgcaaaagggccaagtgcc       c.*1200

          .         .         .         .         .         .       g.168563
 tcaattgtgagcctctgagctaggaggagaagtgatgaagagtggcctatgtggtccctt       c.*1260

          .         .         .         .         .         .       g.168623
 ctacctgaccttaagtcatctcaaaatgaaatattgtgagaatgaagggaacccttaggg       c.*1320

          .         .         .         .         .         .       g.168683
 aaccttgtgggtaaggtaagtggacatggatttgtcagtagcctgttcctactgtgccat       c.*1380

          .         .         .         .         .         .       g.168743
 gttaatcttggtgcgaaaaactattccaatacatctcaaactccaagagacttcagaaac       c.*1440

          .         .         .         .         .         .       g.168803
 atcaagatttagtgtaatgagcggcgcagaaaaatgttttcattgctccataatctgacc       c.*1500

          .         .         .         .         .         .       g.168863
 acacgtaacatttgtgacgtgaaaaccatgactttctcattctgaggtctttggtttctg       c.*1560

          .         .         .         .         .         .       g.168923
 cctgtgggaaattgaatggcactgtatggactatttcatctgttgatggtaaaacaaaag       c.*1620

          .         .         .         .         .         .       g.168983
 ggtgatttttttgcttgtggttgtcatcttgggtttacctttgtaagaagacatcatcac       c.*1680

          .         .         .         .         .         .       g.169043
 cattctgaaggcagtggcttggcatggagatttttattctgtagcactgggcctgttctt       c.*1740

          .         .         .         .         .         .       g.169103
 ctaaggacagcacaaggtagacaattgtagagccaaggccactttttcaggaagatctag       c.*1800

          .         .         .         .         .         .       g.169163
 tctcttgctaaccctcttctttctctcttgctattgctgctgctcttttgatggtttata       c.*1860

          .         .         .         .         .         .       g.169223
 gtcttaatggcctgccttgataattcctttgaacactttcattagttgttttgcatacca       c.*1920

          .         .         .         .         .         .       g.169283
 gagatgccgcacctgctgttggcttatttttttacttgttctattaactgttgattatct       c.*1980

          .         .         .         .         .         .       g.169343
 gaatgtttcccctcctccttgtttcatgtcccaagaatggtgctcctgttttcagtgaca       c.*2040

          .         .         .         .         .         .       g.169403
 gttcagctgaacatataagcagatgtgtaaacagatgaagtaaccatgcagtttccttgt       c.*2100

          .         .         .         .         .         .       g.169463
 ggcattagttccatttcacaaagtgaagaccactggtgggctgatctgagtgtgccaatc       c.*2160

          .         .         .         .         .         .       g.169523
 ctgatcatttaaacctacagccttcaactggtgattcctacccaccgttttcattctgct       c.*2220

          .         .         .         .         .         .       g.169583
 ataaccctgtgatatgtgtgcgtgtgggtgtgagtgtgggtgtgtgcacatatagagatt       c.*2280

          .         .         .         .         .         .       g.169643
 tagtcttaatttcaaccaaatgacatgcaagattccactgccactcttcctggccaaaag       c.*2340

          .         .         .         .         .         .       g.169703
 tgtgcacagactgtgatttattcattgtggtctgtgactttaacccatcattgatgctct       c.*2400

          .         .         .         .         .         .       g.169763
 cacttaggtaaaccctaaagaccaaactagcaacactagtcaagggagtgactggagtta       c.*2460

          .         .         .         .         .         .       g.169823
 tttctggtagcagtagccactggcatcctagaaacacatggacatttgtagcatgaattg       c.*2520

          .         .         .         .         .         .       g.169883
 acctattggtagtgcaatagctatacatgatttttattcttggcaaaagaaaatgcttca       c.*2580

          .         .         .         .         .         .       g.169943
 aaaaaaaagtgatcaaacctgcacattgatcctgtaatagcaaatggaaggctatttctc       c.*2640

          .         .         .         .         .         .       g.170003
 tgtactagcatttcagctttatgtgggaaagttacccgttctcctgcaagtacaatcaac       c.*2700

          .         .         .         .         .         .       g.170063
 ccttgatgacttaagtattaattattctgggtgtagctcacccaagttttcttcctacat       c.*2760

          .         .         .         .         .         .       g.170123
 cttttggctaattccaccacacctcagcatcacagtcagatgggaaaaggggcaggtgga       c.*2820

          .         .         .         .         .         .       g.170183
 ttctcatgtcatgccttcttgtaccttattttcaagttttgtggtggaggaggtttaatt       c.*2880

          .         .         .         .         .         .       g.170243
 atctgctcaagaatctggtatatatagccaggtgcggtggctcatgcctgtaatcccagg       c.*2940

          .         .         .         .         .         .       g.170303
 actttgggcaaggcgagaggatcacctgaggtcaggagttcaagaccagcctggccaaca       c.*3000

          .         .         .         .         .         .       g.170363
 tggcaaaaccccatctctactaaaaatacaaaaattagctgggtttggtggtggacacct       c.*3060

          .         .         .         .         .         .       g.170423
 gtagtcccagctacttgggaggctgcggcaggagaatcacttgaaccccggaagtggagg       c.*3120

          .         .         .         .         .         .       g.170483
 ttgcagtgagccaagatcgtgccattgcactccagcttgggtgaccgagcaagactccgt       c.*3180

          .         .         .         .         .         .       g.170543
 ctcaaaaaaaaaaaaaaaatcggctatatgtaaaaactattaattatgtaacctcactcc       c.*3240

          .         .         .         .         .         .       g.170603
 aatactgtactgatcaagatctgcccactcctagaggactgacccaatggcagatcccct       c.*3300

          .         .         .         .         .         .       g.170663
 actataatctttctgacaactcagtgacaggtaaaatcactctaatattcctaaaatatc       c.*3360

          .         .         .         .         .         .       g.170723
 tagacacttgaattagaaatacagaaccacccccacccctgccattgcttaagccatatt       c.*3420

          .         .         .         .         .         .       g.170783
 aaagcttcatgtactgtaaagtcagggatgtactgtgatactttaagaccactaatctca       c.*3480

          .         .         .         .         .         .       g.170843
 gtggaatttcaggacatagcattagttggtaaattacaccagactaggggctcactcctc       c.*3540

          .         .         .         .         .         .       g.170903
 cttagattgaagtccaaataaaagtcttcacctttggatcaaaggccacatatatatgat       c.*3600

          .         .         .         .         .         .       g.170963
 catcatcaataaattgtcataaagtgtctatgaactgctcttgccatcttcctaatacgt       c.*3660

          .         .         .         .         .         .       g.171023
 aacttcatgacatcatgtctctagaagtgcttaatacaatccaaaagaacaaggggggaa       c.*3720

          .         .         .         .         .         .       g.171083
 ggccccaagtcaccactgaccgacctcagcaggggccagtggtagaacaacaatcttgtg       c.*3780

          .         .         .         .         .         .       g.171143
 aattaggagacatagaaaatgtacgcaaaagtaaattccaagcgctgagcatgtacaagc       c.*3840

          .         .         .         .         .         .       g.171203
 tatttttattattaaaagccaagaaggaagagcattgaagaagtaatgattttaatatag       c.*3900

          .         .         .         .         .         .       g.171263
 tgggggatttcccccttaaatttttataatttccttgtgaataaacaatcatggaaaaga       c.*3960

          .         .         .         .         .         .       g.171323
 agaaacctagtcatacaaaatcagaataaataaaaatcttaagactggatccacatcttt       c.*4020

          .         .         .         .         .         .       g.171383
 ggccaattcatataagcacctaatacatcaatttctctgtacttaaaatgaagagaataa       c.*4080

          .         .         .         .         .         .       g.171443
 ttaatattcttaagtacaatgttttcaatagagaacaaatgaaatcacctttgtcatcaa       c.*4140

          .         .         .         .         .         .       g.171503
 cagcagcccagactgactgtatctagatcacaccttgatgttacgtttgaatgcagtcag       c.*4200

          .         .         .         .         .         .       g.171563
 tagttaccaaaaagtaattagtgcacattaaatagtggtaaaatcagcagggagaaatat       c.*4260

          .         .         .         .         .         .       g.171623
 gggattagcacgtagttccagaaccttcctcctcctccagagtgcaactcaacaaacagt       c.*4320

          .         .         .         .         .         .       g.171683
 acactccaaattaagaatcaatgtttcatcccaggacaaacggtgttgctcccatcacag       c.*4380

          .         .         .         .         .         .       g.171743
 taccacaactgagatactgtgaagtcattgcactaccagtaggttactactcttttgaag       c.*4440

          .         .         .         .         .         .       g.171803
 ttactgtttttaaatcctaaaatatgtccccagttttctacattcattcttcttccccta       c.*4500

          .         .         .         .         .         .       g.171863
 agagttgctagaagcagatgaaggatccctattgactctgcagggtttgatttcagtacc       c.*4560

          .         .         .         .         .         .       g.171923
 ttagacagctatctggtgacttcccagtaggcacgaacaaccccttctctccccttgcag       c.*4620

          .         .         .         .         .         .       g.171983
 tcggtgggcttgatgacgccccagacagtatcctttccttctctactgccgccaaaataa       c.*4680

          .         .         .         .         .         .       g.172043
 acattagggaaatgggatcattaacaccactgagaaaggagtttacagggatcgcaatag       c.*4740

          .         .         .         .         .         .       g.172103
 taactgtctgcttgtggtagtagaaagcttgtgccaggctgcatgaatagaaattaatgt       c.*4800

          .         .         .         .         .         .       g.172163
 taaactcctgttagacgagtaatatgtagatttttattgaaacagaccacagcttattaa       c.*4860

          .         .         .         .         .         .       g.172223
 aaagtactcagtgcaatggtatatacatatatacagatagaaaaaaatataactgtgatc       c.*4920

          .         .         .         .         .         .       g.172283
 tttttgtcttacgccattactggaaacacccaaacgtgaactggagttccctctgaacaa       c.*4980

          .         .         .         .         .         .       g.172343
 aaccattgtcaaatcttcaacatatgacctccaaatctaggtgccaagtgccctgtgaca       c.*5040

          .         .         .         .         .         .       g.172403
 gttgtttacacacctgaaaaatgtatcctggaagctgtaatcttgggcctgggctatgtg       c.*5100

          .         .         .         .         .         .       g.172463
 ttgaaacaagcaaaagagacacatcgtgaccaaccaagctggtggaggaaaagcacaaaa       c.*5160

          .         .         .         .         .         .       g.172523
 ttcaactccaacctgcagttaggatcccaaagagatgttgacatttatagccaaaaagaa       c.*5220

          .         .         .         .         .         .       g.172583
 aaagtacatatatatatatatatatatatatatatatatatatatatatatatatctgaa       c.*5280

          .         .         .         .         .         .       g.172643
 tcagatcgaagcagccaacgtccagcttcactcaagaaggacaaggaataaacaacattc       c.*5340

          .         .         .         .         .         .       g.172703
 tctagctgtgtcatgttgtctcagtttttgaatctcaaccaggactgatccaccttcatc       c.*5400

          .         .         .         .         .         .       g.172763
 agatacgttttttaatggcgcaacaactcaattttggtcccagactctccattctgcact       c.*5460

          .         .         .         .         .         .       g.172823
 ggccacgagaacaacaagagaatgacaggatgttaatggaggaaacattttcatggcaag       c.*5520

          .         .         .         .         .         .       g.172883
 ctcagaaactgaagtgtttatattcagaatcagatgagctttaatatgaatttgcatctt       c.*5580

          .         .         .         .         .         .       g.172943
 gcctctgtactgcttgctattttttaatgataggagaaagcataacagtttattttaaat       c.*5640

          .         .         .         .         .         .       g.173003
 atgaaatatattgatatattataaaatatattgtaactttcaattaacattttgtatcaa       c.*5700

          .         .         .         .         .         .       g.173063
 actagtgtttagcaggtccactgtcagcctgctctcccaatgactgtttctgagtacaca       c.*5760

          .         .         .         .         .         .       g.173123
 tcactgttagtgattgccgggcacccagaaaaagggtcctcctaccacagcctactgaac       c.*5820

          .         .         .         .         .         .       g.173183
 tgccatattctaattctccaaggcctgggtattagagacaaaagaacattattccaagag       c.*5880

          .         .         .         .         .         .       g.173243
 tagaggaataattctaccctaaattctatcaagccatttcagaagagattttaaaagcca       c.*5940

          .         .         .         .         .         .       g.173303
 tcactcctttagtagctctgcaaagccagtttaataaaagttcaggctctttctatataa       c.*6000

          .         .         .         .         .         .       g.173363
 attcaaaggcctcattacataaattatataagtctcaaacctagccaaccagttttcctt       c.*6060

          .         .         .         .         .         .       g.173423
 tgacaatgtcagaattggacataagaaagagtcctgttttcctgtaacttaaaatactca       c.*6120

          .         .         .         .         .         .       g.173483
 aaatcctaggcattctgagtttctccatgtacgtgaaaccggggtcggctttccaaacta       c.*6180

          .         .         .         .         .         .       g.173543
 cacaaggcccaacaagagtccagtgtgcagatgtgcttttctaaattggcaatacccttg       c.*6240

          .         .         .         .         .         .       g.173603
 agggagcaaggttcccacatgtttatcaaggacatggagcccagctcctaagggagtgat       c.*6300

          .         .         .         .         .         .       g.173663
 gggaggagccggcaggacatgaacagccagagccagcaaagagccgggctgccttttctg       c.*6360

          .         .         .         .         .         .       g.173723
 ctagcttcctctagctgggaggaaataaagggttcccgttgagatattgtcctttatagc       c.*6420

          .         .         .         .         .         .       g.173783
 aaaattaagcaactcatggaatctacacccctctttctctacagagcagctgagacatac       c.*6480

          .         .         .         .         .         .       g.173843
 atgtagaagttctcagttccctccttcatatggctaaggcactacttctagatgaaaaca       c.*6540

          .         .         .         .         .         .       g.173903
 ggatgtgttcggttacagaataaagattttctagaatcagtgagcctcttctcacctggg       c.*6600

          .         .         .         .         .         .       g.173963
 accctcacttgctgttgttgctttggtgcaatattgtacaggtgcaaaccaggttgcatc       c.*6660

          .         .         .         .         .         .       g.174023
 ggggcagattaactgagcctatgtgtctcttcccttcccaagccctgaaaattcacatag       c.*6720

          .         .         .         .         .         .       g.174083
 atttacagatagtgcaaaacaacaagttttctcctgggaaaaggctggaatccttcaaat       c.*6780

          .         .         .         .         .         .       g.174143
 ttcaatttatatgagcttaaaggtatataagtcatggggctcactgacattaggtattca       c.*6840

          .         .         .         .         .         .       g.174203
 tgctgtttgaaagagaaatgtctaaatgcccgttttcagtctgtttgtgtagctgagccc       c.*6900

          .         .         .         .         .         .       g.174263
 taacttgtacacaagttttcttgttatggagctaaattctctcagtgcctgtattactcc       c.*6960

          .         .         .         .         .         .       g.174323
 tcagttatatgttaggccgagctccactaaagccatctgaactccagggcacttgttttt       c.*7020

          .         .         .         .         .         .       g.174383
 atcaggttacttactcaccggataatggaaattggcttattttcaattttacaattgact       c.*7080

          .         .         .         .         .         .       g.174443
 gatgaatgtattggtggtaattgatttatttcttcacttttttttgctactaaatgattt       c.*7140

          .         .         .         .         .         .       g.174503
 tttcttttttaaaattattattattattattttgagatggagtctcactctgtcgcccag       c.*7200

          .         .         .         .         .         .       g.174563
 gctggagtgcagtggcgccatctcagctcactgcaagctctgcctcctgggttcatgcaa       c.*7260

          .         .         .         .         .         .       g.174623
 ttctcctgcctcagcctcccgagtagctgggattacaggtgcgtgccaccacgaccagct       c.*7320

          .         .         .         .         .         .       g.174683
 aatttttttgtatttttagtagagacagggtttcatcatgttaaccaggatggtctcgat       c.*7380

          .         .         .         .         .         .       g.174743
 ctcctgacctcgtgatccacctgcctgggcctcccaaagtgagccactgtgcctggccca       c.*7440

          .         .         .         .         .         .       g.174803
 gtaagtgcttttttcttttggtttttccttctaacactgctcagaccaagacttacattt       c.*7500

          .         .         .         .         .         .       g.174863
 ataaagagcaaatatattctgacctttcccctcaaagttgtattccatctagaatcaagg       c.*7560

          .         .         .         .         .         .       g.174923
 aaacaaatgcaaattcatcatttggggaaagcagacctcttgacagtaattcaagtccat       c.*7620

          .         .         .         .         .         .       g.174983
 ggctatatgctaacccttgctactcaaagtgtggtccacagaccagcagcgttagcatca       c.*7680

          .         .         .         .         .         .       g.175043
 tctgtaagcttgttagaaatgcagaatctcaggccccacatcaaaccttcttcatcagaa       c.*7740

          .         .         .         .         .         .       g.175103
 ttggccttttaacaaatccccaggtgacctgtatgcaccagaaatattgataagcactgg       c.*7800

          .         .         .         .         .         .       g.175163
 cctcacctcaccgtagtgataactaacctcgttaataattagagaatgaagctatctctt       c.*7860

          .         .         .         .         .         .       g.175223
 ccttgagtctcatttacagaattatttgaagatgtgaaggtcctgaatgatcataaggat       c.*7920

          .         .         .         .         .         .       g.175283
 taaaaaaatgcatctttaaattccacttgaggttatataacttggatggtctacatcaaa       c.*7980

          .         .         .         .         .         .       g.175343
 cataataaagtcaataagagatagtctttttccggtcttacctaaatagcactccatatc       c.*8040

          .         .         .         .         .         .       g.175403
 cttgagccacctcaaagcccccatttttaagttttagtctttttttttttagaccagact       c.*8100

          .         .         .         .         .         .       g.175463
 agcaaagccatcagaatatcaggtggaacctcagggcaggtcctctggaaggctacagga       c.*8160

          .         .         .         .         .         .       g.175523
 gtctctgcttagcatagtacagaaattgttgtgtttctcgatccttgtgttcttcccttg       c.*8220

          .         .         .         .         .         .       g.175583
 aggaactcagcatctcaccagtaagaactcccctcccctagaggaaaatagcaagagaag       c.*8280

          .         .         .         .         .         .       g.175643
 ttagtttaaccatctagaaacattgctaatctccttgaaagccaattctcttactcattg       c.*8340

          .         .         .         .         .         .       g.175703
 caccaacaagaaacactccaaggtgggcaaggaaagacgtgaattctgatattggcgcca       c.*8400

          .         .         .         .         .         .       g.175763
 taactcgatatgtacccagaaacagttatgttctaaattaatggctttaacctgttcatt       c.*8460

          .         .         .         .         .         .       g.175823
 gtaaaaagtgccttggacttcaatctaaagaggtcagtataaatatgtatgtgtgtgtgt       c.*8520

          .         .         .         .         .         .       g.175883
 gacgtgtatgtaggcaaatatttacagatttatacatacataggtgcacacacatatacc       c.*8580

          .         .         .         .         .         .       g.175943
 cgcacattcatatataatatatacatacatatataaatgcttcataatatatcatattgc       c.*8640

          .         .         .         .         .         .       g.176003
 tattcacagctccatttcttttgtctggtcctatgtttatttgtttagtgagacctttac       c.*8700

          .         .         .         .         .         .       g.176063
 atagagaggttctattcggaacattgatgtattttttgtttgttttttactttttattaa       c.*8760

          .         .         .         .         .         .       g.176123
 aaaggtaaaggatattaaaaaaaaaaaaaaaagtcaagtgcctgaaggttttgaatggag       c.*8820

          .         .         .         .         .         .       g.176183
 ttacggtaaactttctcaggtcaccaaagaggaaacatttttcctttggaaaacattttt       c.*8880

          .         .         .         .         .         .       g.176243
 ctgtttcagtgactttgttttcccttggtggtaatgcataaataagagtggttaaagtga       c.*8940

          .         .         .         .         .         .       g.176303
 ttttgtaagttttatttcaatccatttctgtggttcccataaggcaatagctaaaaattt       c.*9000

          .         .         .         .         .         .       g.176363
 gttcagtctagtgcccagttttctccacacatcagcatcagaagggcccggtcttcacat       c.*9060

          .         .         .         .         .         .       g.176423
 gctctgtgtggttttgttcgcgttgttactgtgttccttactaaggaaaggcaaatgaaa       c.*9120

          .         .         .         .         .         .       g.176483
 ttgcaggggctggagcttagaccagctccaaatatggcttccttttggtaacacacacag       c.*9180

          .         .         .         .         .         .       g.176543
 aaggtggactagtgggaagtctctctccctgaagcaggtgggaacctgtgtcttagaagg       c.*9240

          .         .         .         .         .         .       g.176603
 cagaggagtcccagtgaactctccacagctccatgggccctgcctgtctacagttataca       c.*9300

          .         .         .         .         .         .       g.176663
 actgcctgtatgagtcagcctttctctaccttagccaaaggtcttctctttctgtggtgt       c.*9360

          .         .         .         .         .         .       g.176723
 gacagcttgtaatgaaccaacttgctctggttagaagtccctagagctccaggaagagtc       c.*9420

          .         .         .         .         .         .       g.176783
 gccaggtttccattgctgtgctcaaagctcaaggacacattatacttctttaaaccaact       c.*9480

          .         .         .         .         .         .       g.176843
 aaatctctctagctccctgcccccatggtgacactttcataataggcagggccaagtcag       c.*9540

          .         .         .         .         .         .       g.176903
 agaggtcatgccctgtatacagtgtcaatcagaagagacactgcaaaatgtcagaggtga       c.*9600

          .         .         .         .         .         .       g.176963
 ccagaaagacaacagatctctccagctgtcctcacagctgcaggcacatttgtggaattg       c.*9660

          .         .         .         .         .         .       g.177023
 tgagtaggaaggcttggcagccaggggatgggaaatgaatttccccaagttgaaaaccct       c.*9720

          .         .         .         .         .         .       g.177083
 gtacccttactttccttcccataaatttttctgtagttctaggtaaataataataataat       c.*9780

          .         .         .         .         .         .       g.177143
 aaaaatgcaaattaggtgctttagaaggagtatgtaatatctgggactttttctaagttg       c.*9840

          .         .         .         .         .         .       g.177203
 gtagacctaaaaaatgttttcaaaaatatatctagctgcatttctactgctgtcattcct       c.*9900

          .         .         .         .         .         .       g.177263
 taaagctcttcctccaaaaactccatatgaatgaatacatttaccaactcagtgattact       c.*9960

          .         .         .         .         .         .       g.177323
 aaataatagtactttatacttatacacagtaatacctttcatctaaggatctcaaatgcc       c.*10020

          .         .         .         .         .         .       g.177383
 aatatattagtcatcaccctgtaaggtggatgacatattattcccattattccaatggga       c.*10080

          .         .         .         .         .         .       g.177443
 aaattgggccatagaaaactgaggagcaaatgactcatctacaggaattaaatggaaaaa       c.*10140

          .         .         .         .         .         .       g.177503
 acaggctaggatttctcagcacactttaggagtgaatgaaaacttacaggcttcagttct       c.*10200

          .         .         .         .         .         .       g.177563
 actgctggccaccattggatttgtaagatccaggatgtgtattgaccacatgtgtccaga       c.*10260

          .         .         .         .         .         .       g.177623
 cccaggcttagggcatctggaatgagagtggtgggctggtgtgtgggtctgaggatctgg       c.*10320

          .         .         .         .         .         .       g.177683
 atgggagactgcattttcttctctgtgcaaaatatggaagtgtgaccttgaaggtgggct       c.*10380

          .         .         .         .         .         .       g.177743
 tagtctatggccttccccactcctgcttgaactgaagctggagagaatgggcatttttaa       c.*10440

          .         .         .         .         .         .       g.177803
 atgttacggcatatgctaatataatattatggcattaaataaaaacaagaagagaactga       c.*10500

          .                                                         g.177817
 ctaaaaccaaaaaa                                                     c.*10514

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center