SET binding protein 1 (SETBP1) - coding DNA reference sequence

(used for variant description)

(last modified September 14, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_015559.2 in the SETBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_027527.1, covering SETBP1 transcript NM_015559.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5781
     ggttaagtggagctagagagctacattgtaacctagttggatttttttgggggggg       c.-241

 .         .         .         .         .         .                g.5841
 aatgtatcagaatctaacgtgtcgttaatagaaagaagaacaggcaagaagtggtccagc       c.-181

 .        | 02.         .         .         .         .             g.26054
 cggcgaag | ttgcagatctgatctcttctgaacacctcatcgtgtctccatccctgggaat    c.-121

 .         .         .         .         .         .                g.26114
 ctgaccctagcaactggaccactttgttcttggaattttgggtgtcctcttttctcacct       c.-61

 .         .         .         .         .         .                g.26174
 ttcccttttcccttttccccttccccctcctgagaactccggaagactgtagagattgtc       c.-1

          .         .         .         .         .         .       g.26234
 ATGGAGTCCAGGGAAACCTTAAGCAGCTCCCGGCAAAGAGGGGGCGAGTCAGACTTCCTG       c.60
 M  E  S  R  E  T  L  S  S  S  R  Q  R  G  G  E  S  D  F  L         p.20

          .         .         .         .         .         .       g.26294
 CCGGTCTCCTCAGCCAAGCCCCCAGCTGCTCCTGGCTGTGCAGGAGAACCTTTGCTCTCC       c.120
 P  V  S  S  A  K  P  P  A  A  P  G  C  A  G  E  P  L  L  S         p.40

          .         .         .         .         .         .       g.26354
 ACTCCAGGACCTGGGAAGGGGATCCCGGTGGGCGGAGAGCGCATGGAGCCAGAGGAGGAG       c.180
 T  P  G  P  G  K  G  I  P  V  G  G  E  R  M  E  P  E  E  E         p.60

          .         .         .         .         .         .       g.26414
 GATGAACTAGGCTCAGGGCGGGATGTGGATTCCAACTCCAACGCGGACAGTGAGAAATGG       c.240
 D  E  L  G  S  G  R  D  V  D  S  N  S  N  A  D  S  E  K  W         p.80

          .         .         .         .         .         .       g.26474
 GTGGCAGGAGATGGTTTGGAAGAGCAGGAATTTTCTATCAAGGAGGCAAACTTCACAGAG       c.300
 V  A  G  D  G  L  E  E  Q  E  F  S  I  K  E  A  N  F  T  E         p.100

          .         .         .         .         .         .       g.26534
 GGAAGTCTGAAGCTAAAGATTCAGACCACAAAGCGGGCTAAGAAACCCCCAAAGAATTTG       c.360
 G  S  L  K  L  K  I  Q  T  T  K  R  A  K  K  P  P  K  N  L         p.120

          .         .         .         .         .         .       g.26594
 GAGAACTATATATGTCCACCTGAGATCAAGATCACCATCAAGCAGTCTGGGGACCAGAAG       c.420
 E  N  Y  I  C  P  P  E  I  K  I  T  I  K  Q  S  G  D  Q  K         p.140

          .         .         .         .         .         .       g.26654
 GTGTCCCGTGCTGGAAAAAATAGCAAAGCCACGAAGGAGGAAGAAAGAAGCCACTCCAAA       c.480
 V  S  R  A  G  K  N  S  K  A  T  K  E  E  E  R  S  H  S  K         p.160

        | 03 .         .         .         .         .         .    g.194111
 AAGAAG | CTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAG    c.540
 K  K   | L  L  T  A  S  D  L  A  A  S  D  L  K  G  F  Q  P  Q      p.180

  | 04       .         .         .         .         .         .    g.274768
  | GCTTACGAGAGGCCCCAGAAACATTCAACTCTCCATTATGACACGGGCCTCCCACAGGAC    c.600
  | A  Y  E  R  P  Q  K  H  S  T  L  H  Y  D  T  G  L  P  Q  D      p.200

          .         .         .         .         .         .       g.274828
 TTCACCGGTGACACCTTAAAACCAAAGCACCAGCAAAAAAGCAGCAGCCAGAACCACATG       c.660
 F  T  G  D  T  L  K  P  K  H  Q  Q  K  S  S  S  Q  N  H  M         p.220

          .         .         .         .         .         .       g.274888
 GACTGGTCCACCAACTCTGACAGCGGACCCGTCACTCAGAATTGCTTCATCAGTCCAGAG       c.720
 D  W  S  T  N  S  D  S  G  P  V  T  Q  N  C  F  I  S  P  E         p.240

          .         .         .         .         .         .       g.274948
 TCTGGCAGAGAAACTGCAAGCACCAGCAAGATCCCCGCTCTTGAGCCCGTGGCTTCCTTT       c.780
 S  G  R  E  T  A  S  T  S  K  I  P  A  L  E  P  V  A  S  F         p.260

          .         .         .         .         .         .       g.275008
 GCAAAGGCCCAGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAAT       c.840
 A  K  A  Q  G  K  K  G  S  A  G  N  T  W  S  Q  L  S  N  N         p.280

          .         .         .         .         .         .       g.275068
 AACAAAGATCTGCTCTTGGGAGGTGTGGCTCCATCCCCAAGCAGCCACAGCTCACCAGCC       c.900
 N  K  D  L  L  L  G  G  V  A  P  S  P  S  S  H  S  S  P  A         p.300

          .         .         .         .         .         .       g.275128
 CCACCCAGCAGCTCTGCTGAGTGCAACGGGCTTCAGCCCTTGGTGGATCAAGATGGAGGA       c.960
 P  P  S  S  S  A  E  C  N  G  L  Q  P  L  V  D  Q  D  G  G         p.320

          .         .         .         .         .         .       g.275188
 GGTACAAAGGAGCCCCCAGAACCACCTACGGTGGGCAGCAAGAAAAAGTCCAGTAAAAAA       c.1020
 G  T  K  E  P  P  E  P  P  T  V  G  S  K  K  K  S  S  K  K         p.340

          .         .         .         .         .         .       g.275248
 GATGTGATAAGTCAGACCATACCAAACCCAGACCTGGATTGGGTCAAGAATGCCCAGAAA       c.1080
 D  V  I  S  Q  T  I  P  N  P  D  L  D  W  V  K  N  A  Q  K         p.360

          .         .         .         .         .         .       g.275308
 GCATTTGACAATACAGAAGGGAAAAGGGAAGGTTATTCCGCAGATAGTGCCCAAGAGGCA       c.1140
 A  F  D  N  T  E  G  K  R  E  G  Y  S  A  D  S  A  Q  E  A         p.380

          .         .         .         .         .         .       g.275368
 TCACCAGCCAGGCAGAACGTGAGTTCTGCCAGTAATCCTGAAAATGACTCAAGTCATGTC       c.1200
 S  P  A  R  Q  N  V  S  S  A  S  N  P  E  N  D  S  S  H  V         p.400

          .         .         .         .         .         .       g.275428
 CGGATTACTATCCCCATCAAGGCACCCTCTCTGGATCCAACCAACCATAAGAGGAAAAAA       c.1260
 R  I  T  I  P  I  K  A  P  S  L  D  P  T  N  H  K  R  K  K         p.420

          .         .         .         .         .         .       g.275488
 AGACAGTCCATTAAAGCGGTGGTGGAAAAGATCATGCCAGAGAAAGCCTTGGCTTCTGGA       c.1320
 R  Q  S  I  K  A  V  V  E  K  I  M  P  E  K  A  L  A  S  G         p.440

          .         .         .         .         .         .       g.275548
 ATCACCATGAGCAGTGAAGTAGTTAACAGGATACTTTCCAACTCTGAGGGGAATAAGAAG       c.1380
 I  T  M  S  S  E  V  V  N  R  I  L  S  N  S  E  G  N  K  K         p.460

          .         .         .         .         .         .       g.275608
 GATCCCCGTGTCCCTAAGTTGAGTAAAATGATAGAGAATGAGTCCCCCTCAGTTGGCCTT       c.1440
 D  P  R  V  P  K  L  S  K  M  I  E  N  E  S  P  S  V  G  L         p.480

          .         .         .         .         .         .       g.275668
 GAAACTGGTGGAAATGCTGAGAAAGTTATCCCAGGAGGTGTGTCTAAGCCGCGGAAGCCA       c.1500
 E  T  G  G  N  A  E  K  V  I  P  G  G  V  S  K  P  R  K  P         p.500

          .         .         .         .         .         .       g.275728
 CCCATGGTCATGACACCTCCAACGTGCACAGATCACTCTCCATCCAGAAAGCTGCCAGAA       c.1560
 P  M  V  M  T  P  P  T  C  T  D  H  S  P  S  R  K  L  P  E         p.520

          .         .         .         .         .         .       g.275788
 ATCCAGCATCCAAAATTTGCTGCAAAACGAAGGTGGACTTGCAGCAAACCAAAACCTAGC       c.1620
 I  Q  H  P  K  F  A  A  K  R  R  W  T  C  S  K  P  K  P  S         p.540

          .         .         .         .         .         .       g.275848
 ACCATGCTTCGAGAGGCAGTTATGGCCACCTCTGATAAACTGATGCTGGAGCCCCCGTCT       c.1680
 T  M  L  R  E  A  V  M  A  T  S  D  K  L  M  L  E  P  P  S         p.560

          .         .         .         .         .         .       g.275908
 GCATATCCCATCACCCCATCCAGCCCTCTCTACACCAACACAGACAGTCTTACTGTGATC       c.1740
 A  Y  P  I  T  P  S  S  P  L  Y  T  N  T  D  S  L  T  V  I         p.580

          .         .         .         .         .         .       g.275968
 ACTCCAGTCAAAAAGAAGCGGGGACGACCAAAGAAGCAGCCTTTGCTCACAGTCGAGACG       c.1800
 T  P  V  K  K  K  R  G  R  P  K  K  Q  P  L  L  T  V  E  T         p.600

          .         .         .         .         .         .       g.276028
 ATTCATGAGGGAACTTCCACCAGCCCCGTCAGTCCCATCAGCCGAGAGTTTCCTGGCACT       c.1860
 I  H  E  G  T  S  T  S  P  V  S  P  I  S  R  E  F  P  G  T         p.620

          .         .         .         .         .         .       g.276088
 AAGAAAAGAAAGCGACGACGCAATTTAGCGAAGTTGGCCCAGCTAGTGCCGGGAGAGGAC       c.1920
 K  K  R  K  R  R  R  N  L  A  K  L  A  Q  L  V  P  G  E  D         p.640

          .         .         .         .         .         .       g.276148
 AAACCCATGAGCGAGATGAAATTTCACAAGAAAGTTGGAAAGCTCGGCGTGTTGGATAAG       c.1980
 K  P  M  S  E  M  K  F  H  K  K  V  G  K  L  G  V  L  D  K         p.660

          .         .         .         .         .         .       g.276208
 AAGACCATCAAAACTATCAATAAGATGAAGACACTCAAGAGGAAAAACATCTTGAATCAG       c.2040
 K  T  I  K  T  I  N  K  M  K  T  L  K  R  K  N  I  L  N  Q         p.680

          .         .         .         .         .         .       g.276268
 ATCTTGTCCTGTTCCAGCAGCGTTGCTCTGAAGGCAAAAGCTCCCCCAGAGACCAGCCCT       c.2100
 I  L  S  C  S  S  S  V  A  L  K  A  K  A  P  P  E  T  S  P         p.700

          .         .         .         .         .         .       g.276328
 GGGGCAGCAGCCATTGAAAGCAAACTGGGCAAGCAGATTAATGTCAGCAAGAGGGGAACC       c.2160
 G  A  A  A  I  E  S  K  L  G  K  Q  I  N  V  S  K  R  G  T         p.720

          .         .         .         .         .         .       g.276388
 ATCTACATTGGCAAGAAGCGGGGCAGGAAGCCAAGAGCAGAGCTGCCACCCCCATCCGAA       c.2220
 I  Y  I  G  K  K  R  G  R  K  P  R  A  E  L  P  P  P  S  E         p.740

          .         .         .         .         .         .       g.276448
 GAACCCAAAACAGCCATCAAGCACCCCAGGCCTGTTTCTAGCCAGCCGGATGTTCCAGCC       c.2280
 E  P  K  T  A  I  K  H  P  R  P  V  S  S  Q  P  D  V  P  A         p.760

          .         .         .         .         .         .       g.276508
 GTGCCTTCCAACTTTCAGTCACTTGTGGCGTCTTCACCAGCAGCTATGCACCCACTTTCA       c.2340
 V  P  S  N  F  Q  S  L  V  A  S  S  P  A  A  M  H  P  L  S         p.780

          .         .         .         .         .         .       g.276568
 ACACAGTTAGGTGGGTCCAATGGCAACCTGAGCCCTGCCAGCACTGAAACCAATTTTTCA       c.2400
 T  Q  L  G  G  S  N  G  N  L  S  P  A  S  T  E  T  N  F  S         p.800

          .         .         .         .         .         .       g.276628
 GAGTTGAAAACTATGCCAAATCTCCAGCCCATCAGTGCTCTTCCAACCAAAACCCAAAAG       c.2460
 E  L  K  T  M  P  N  L  Q  P  I  S  A  L  P  T  K  T  Q  K         p.820

          .         .         .         .         .         .       g.276688
 GGAATACACAGTGGAACCTGGAAGCTGTCTCCACCCAGACTGATGGCCAACTCCCCTTCA       c.2520
 G  I  H  S  G  T  W  K  L  S  P  P  R  L  M  A  N  S  P  S         p.840

          .         .         .         .         .         .       g.276748
 CACCTGTGCGAGATTGGCTCCCTAAAGGAAATCACGCTGTCCCCTGTGAGCGAGTCCCAC       c.2580
 H  L  C  E  I  G  S  L  K  E  I  T  L  S  P  V  S  E  S  H         p.860

          .         .         .         .         .         .       g.276808
 AGTGAGGAGACGATCCCCAGCGACAGCGGCATTGGGACAGACAACAACAGCACTTCTGAC       c.2640
 S  E  E  T  I  P  S  D  S  G  I  G  T  D  N  N  S  T  S  D         p.880

          .         .         .         .         .         .       g.276868
 CAAGCGGAGAAGAGCTCAGAATCCCGAAGGAGGTACTCTTTTGATTTCTGCTCCCTGGAC       c.2700
 Q  A  E  K  S  S  E  S  R  R  R  Y  S  F  D  F  C  S  L  D         p.900

          .         .         .         .         .         .       g.276928
 AACCCGGAGGCCATTCCGTCCGACACCAGCACAAAGAACCGGCATGGCCACCGGCAAAAG       c.2760
 N  P  E  A  I  P  S  D  T  S  T  K  N  R  H  G  H  R  Q  K         p.920

          .         .         .         .         .         .       g.276988
 CATCTCATTGTGGACAACTTTCTGGCCCACGAAAGCCTCAAGAAGCCAAAGCACAAGAGG       c.2820
 H  L  I  V  D  N  F  L  A  H  E  S  L  K  K  P  K  H  K  R         p.940

          .         .         .         .         .         .       g.277048
 AAACGGAAAAGCCTGCAAAACCGCGATGACCTCCAGTTTCTGGCAGACCTGGAGGAGCTA       c.2880
 K  R  K  S  L  Q  N  R  D  D  L  Q  F  L  A  D  L  E  E  L         p.960

          .         .         .         .         .         .       g.277108
 ATCACCAAGTTCCAAGTGTTCAGAATCTCCCACCGGAGTTACACCTTCTACCACGAGAAT       c.2940
 I  T  K  F  Q  V  F  R  I  S  H  R  S  Y  T  F  Y  H  E  N         p.980

          .         .         .         .         .         .       g.277168
 CCATATCCCAGCATTTTTCGGATTAATTTTGATCACTATTACCCGGTGCCATATATCCAG       c.3000
 P  Y  P  S  I  F  R  I  N  F  D  H  Y  Y  P  V  P  Y  I  Q         p.1000

          .         .         .         .         .         .       g.277228
 TATGACCCGTTGCTCTATCTTCGTAGGACTTCAGACTTGAAGTCAAAGAAGAAGCGTGGT       c.3060
 Y  D  P  L  L  Y  L  R  R  T  S  D  L  K  S  K  K  K  R  G         p.1020

          .         .         .         .         .         .       g.277288
 AGGCCTGCAAAAACCAATGACACCATGACAAAGGTGCCTTTTTTACAAGGGTTCAGCTAC       c.3120
 R  P  A  K  T  N  D  T  M  T  K  V  P  F  L  Q  G  F  S  Y         p.1040

          .         .         .         .         .         .       g.277348
 CCTATTCCCAGTGGAAGTTACTATGCACCCTATGGAATGCCTTACACATCAATGCCTATG       c.3180
 P  I  P  S  G  S  Y  Y  A  P  Y  G  M  P  Y  T  S  M  P  M         p.1060

          .         .         .         .         .         .       g.277408
 ATGAACCTTGGTTATTACGGTCAGTACCCAGCTCCTTTGTACCTATCGCACACGCTTGGA       c.3240
 M  N  L  G  Y  Y  G  Q  Y  P  A  P  L  Y  L  S  H  T  L  G         p.1080

          .         .         .         .         .         .       g.277468
 GCAGCTTCCCCATTCATGAGGCCAACAGTGCCACCACCTCAGTTCCACACAAACTCCCAC       c.3300
 A  A  S  P  F  M  R  P  T  V  P  P  P  Q  F  H  T  N  S  H         p.1100

          .         .         .         .         .         .       g.277528
 GTAAAGATGTCCGGTGCAGCTAAGCATAAAGCCAAGCATGGAGTACACCTGCAGGGACCT       c.3360
 V  K  M  S  G  A  A  K  H  K  A  K  H  G  V  H  L  Q  G  P         p.1120

          .         .         .         .         .         .       g.277588
 GTTAGCATGGGCCTTGGTGACATGCAGCCTTCTCTGAACCCTCCCAAGGTAGGCAGTGCC       c.3420
 V  S  M  G  L  G  D  M  Q  P  S  L  N  P  P  K  V  G  S  A         p.1140

          .         .         .         .         .         .       g.277648
 AGTCTGTCCAGTGGTCGGCTCCATAAGAGGAAACACAAACACAAGCATAAGCACAAGGAA       c.3480
 S  L  S  S  G  R  L  H  K  R  K  H  K  H  K  H  K  H  K  E         p.1160

          .         .         .         .         .         .       g.277708
 GACCGGATCCTAGGGACCCATGACAACCTGAGTGGTCTTTTTGCAGGCAAAGCCACAGGC       c.3540
 D  R  I  L  G  T  H  D  N  L  S  G  L  F  A  G  K  A  T  G         p.1180

          .         .         .         .         .         .       g.277768
 TTCTCCAGCCACATCCTGAGCGAGCGGCTGAGTAGCGCAGACAAAGAGCTCCCGCTGGTG       c.3600
 F  S  S  H  I  L  S  E  R  L  S  S  A  D  K  E  L  P  L  V         p.1200

          .         .         .         .         .         .       g.277828
 AGTGAGAAGAACAAGCATAAGGAGAAACAGAAGCACCAGCACAGCGAAGCCGGCCACAAA       c.3660
 S  E  K  N  K  H  K  E  K  Q  K  H  Q  H  S  E  A  G  H  K         p.1220

          .         .         .         .         .         .       g.277888
 GCTTCTAAGAACAACTTTGAGGTGGACACCCTGTCTACACTGTCACTTTCCGACGCCCAG       c.3720
 A  S  K  N  N  F  E  V  D  T  L  S  T  L  S  L  S  D  A  Q         p.1240

          .         .         .         .         .         .       g.277948
 CATTGGACACAGGCCAAGGAAAAAGGAGACTTGAGCAGTGAGCCTGTGGACTCATGCACG       c.3780
 H  W  T  Q  A  K  E  K  G  D  L  S  S  E  P  V  D  S  C  T         p.1260

          .         .         .         .         .         .       g.278008
 AAAAGATACTCTGGCAGTGGCGGGGATGGTGGCAGCACGAGATCAGAGAACCTGGACGTG       c.3840
 K  R  Y  S  G  S  G  G  D  G  G  S  T  R  S  E  N  L  D  V         p.1280

          .         .         .         .         .         .       g.278068
 TTCAGTGAAATGAACCCTTCGAATGACAAGTGGGACAGTGACGTGAGTGGGAGTAAAAGG       c.3900
 F  S  E  M  N  P  S  N  D  K  W  D  S  D  V  S  G  S  K  R         p.1300

          .         .         .         .         .         .       g.278128
 AGGAGCTATGAAGGCTTTGGAACGTACAGGGAAAAGGACATCCAAGCCTTCAAGATGAAC       c.3960
 R  S  Y  E  G  F  G  T  Y  R  E  K  D  I  Q  A  F  K  M  N         p.1320

          .         .         .         . | 05       .         .    g.363332
 CGCAAGGAGAGAAGTTCTTATGACTCCTCCATGTCTCCAG | GGATGCCAAGTCCCCACTTA    c.4020
 R  K  E  R  S  S  Y  D  S  S  M  S  P  G |   M  P  S  P  H  L      p.1340

          .         .         .         .         .         .       g.363392
 AAAGTGGACCAGACAGCAGTGCATAGTAAGAACGAAGGCTCAGTGCCCACCATGATGACC       c.4080
 K  V  D  Q  T  A  V  H  S  K  N  E  G  S  V  P  T  M  M  T         p.1360

          .         .         .         .         .         .       g.363452
 AGGAAGAAGCCAGCCGCAGTTGACAGTGTTACAATTCCACCAGCCCCAGTGTTATCTCTC       c.4140
 R  K  K  P  A  A  V  D  S  V  T  I  P  P  A  P  V  L  S  L         p.1380

          .         .         .  | 06      .         .         .    g.387935
 CTTGCTGCATCTGCAGCAACGTCGGATGCAG | TCGGCTCCTCCCTGAAGAAGAGGTTCAAG    c.4200
 L  A  A  S  A  A  T  S  D  A  V |   G  S  S  L  K  K  R  F  K      p.1400

          .         .         .         .         .         .       g.387995
 CGGCGGGAGATCGAAGCCATCCAGTGCGAAGTGCGGAAGATGTGCAACTACACCAAGATC       c.4260
 R  R  E  I  E  A  I  Q  C  E  V  R  K  M  C  N  Y  T  K  I         p.1420

          .         .         .         .         .         .       g.388055
 CTGTCCACCAAGAAGAACCTGGACCACGTGAACAAGATCCTGAAGGCCAAGCGGCTGCAG       c.4320
 L  S  T  K  K  N  L  D  H  V  N  K  I  L  K  A  K  R  L  Q         p.1440

          .         .         .         .         .         .       g.388115
 AGACAATCAAAAACAGGCAACAACTTCGTGAAGAAGAGGCGCGGGCGTCCCAGGAAGCAG       c.4380
 R  Q  S  K  T  G  N  N  F  V  K  K  R  R  G  R  P  R  K  Q         p.1460

          .         .         .         .         .         .       g.388175
 CCCACCCAGTTCGATGAGGACTCCAGAGACCAAATGCCGGTGCTGGAAAAATGCATCGAC       c.4440
 P  T  Q  F  D  E  D  S  R  D  Q  M  P  V  L  E  K  C  I  D         p.1480

          .         .         .         .         .         .       g.388235
 CTGCCCAGCAAAAGAGGCCAGAAGCCCAGCCTGAGCCCGCTGGTGCTGGAGCCCGCCGCC       c.4500
 L  P  S  K  R  G  Q  K  P  S  L  S  P  L  V  L  E  P  A  A         p.1500

          .         .         .         .         .         .       g.388295
 AGCCAAGACACCATCATGGCCACCATCGAGGCGGTCATCCACATGGCCCGGGAGGCGCCG       c.4560
 S  Q  D  T  I  M  A  T  I  E  A  V  I  H  M  A  R  E  A  P         p.1520

          .         .         .         .         .         .       g.388355
 CCCCTGCCCCCGCCACCGCCGCCGCCCCTGCCGCCACCGCCGCCACCACCCCTGCCCCCG       c.4620
 P  L  P  P  P  P  P  P  P  L  P  P  P  P  P  P  P  L  P  P         p.1540

          .         .         .         .         .         .       g.388415
 CCACCCCCTCTACCCAAGACCCCCCGAGGCGGAAAGAGGAAACACAAACCGCAGGCCCCC       c.4680
 P  P  P  L  P  K  T  P  R  G  G  K  R  K  H  K  P  Q  A  P         p.1560

          .         .         .         .         .         .       g.388475
 GCTCAGCCCCCACAGCAGTCGCCCCCGCAGCAGCCCCTTCCCCAGGAAGAGGAGGTGAAA       c.4740
 A  Q  P  P  Q  Q  S  P  P  Q  Q  P  L  P  Q  E  E  E  V  K         p.1580

          .         .         .         .         .                 g.388526
 GCCAAAAGGCAGAGGAAGTCCCGAGGGAGTGAGAGCGAGGTCCTTCCCTAG                c.4791
 A  K  R  Q  R  K  S  R  G  S  E  S  E  V  L  P  X                  p.1596

          .         .         .         .         .         .       g.388586
 ggcgggtctgggcgtctgcacctggggcctagggaactgacacgtgggaagcgcagtgag       c.*60

          .         .         .         .         .         .       g.388646
 ccggggcgggggcggaatcccccgctgcagggacacccacgcccttctctccagaagccg       c.*120

          .         .         .         .         .         .       g.388706
 ggcaggcagaatccggccagacgacggggctgagccatcaggagctcttgggaaagcaaa       c.*180

          .         .         .         .         .         .       g.388766
 gcagggagacaccttcagaagaagcttgtctgagcttcaccgcagctcccaccacgcggc       c.*240

          .         .         .         .         .         .       g.388826
 gcttcagtacggctggatcctccgcaggcgagcggaaggcccccaggaggagcaggctgg       c.*300

          .         .         .         .         .         .       g.388886
 tggcactctcctgacctcacgctgccaaggtgcgccctcgactcccgatttcatttgctg       c.*360

          .         .         .         .         .         .       g.388946
 gccaggaaaatcgaaagggaaacaccctcaattaggaaacattccaaggggagaaaagct       c.*420

          .         .         .         .         .         .       g.389006
 gcaaattgctcaactggcattgctgtaacccgttccatttaattggtttttatttctttt       c.*480

          .         .         .         .         .         .       g.389066
 gattttcaagctctgctaagctttggggtaccaacgtcatcttcaggtgacctgaatctt       c.*540

          .         .         .         .         .         .       g.389126
 tcccttaaccgtacagtttctcgatggaattgtgtgatcagaaggtggaattctagtgat       c.*600

          .         .         .         .         .         .       g.389186
 aggcgacctcagacccgcattcatgttctgtgtgcctcttctattgcacatacactgatt       c.*660

          .         .         .         .         .         .       g.389246
 tttagcattgtctattcctatttttcctttgcccattgtacttccatatatcttttcatt       c.*720

          .         .         .         .         .         .       g.389306
 aacttacttgctgccttttttttttcttggtacacatttaaataaagtaatccttaacct       c.*780

          .         .         .         .         .         .       g.389366
 gtgctgtaaagttcacccttggcatgctgttccaagaacctgggtttgaatcccaatcgt       c.*840

          .         .         .         .         .         .       g.389426
 tgtgaaacatactcagtattgataaaacctttttaataagtgatgcagagcagccaagga       c.*900

          .         .         .         .         .         .       g.389486
 tatgttgacccagatgtcaaccaggctatttttatacttaaaacatgtcagcagagcata       c.*960

          .         .         .         .         .         .       g.389546
 ggcagaataaaatggtttaaataccccacagcaaatagagtaactgacaaaccaccaaaa       c.*1020

          .         .         .         .         .         .       g.389606
 actgaaaccccagacccaccagaaagacaagtgtctagcaatgccttggtacctgatctt       c.*1080

          .         .         .         .         .         .       g.389666
 tttcattcaaataattgtcataggttgttcaaaaaaaaaaaaaaaaaggaaacaaaaaca       c.*1140

          .         .         .         .         .         .       g.389726
 caatagaagtccattatcccttgataattatttcttaaaagcaaatgggagtaagtgttc       c.*1200

          .         .         .         .         .         .       g.389786
 ttatctggaaaaataaataaataaaatgctcaaagggtatcaccacttcaattttatcaa       c.*1260

          .         .         .         .         .         .       g.389846
 gccaccttggacaaagtatccaaattgtggttgccttaataaactaaaacattattgtac       c.*1320

          .         .         .         .         .         .       g.389906
 ataatgtaattataaatctatcagtctgcatggatgcaaactgtgtgtgacaaatcgtct       c.*1380

          .         .         .         .         .         .       g.389966
 tttaaatggtcaatttcagctgtacatttctcatccaagttgtactctagccattggttt       c.*1440

          .         .         .         .         .         .       g.390026
 agcgtggacagatactccatctctattatccatttccacagcccaaataaaatatgttaa       c.*1500

          .         .         .         .         .         .       g.390086
 gcaggctcagaatgaatatgaagaattccatttccgtagatgttttctaaaagtcagatt       c.*1560

          .         .         .         .         .         .       g.390146
 gtggaaatttcaaataagtattttcaatttcctccctcactccctcttaccttccccaag       c.*1620

          .         .         .         .         .         .       g.390206
 acatcaaacacctggcatggtagattatagaaagagacactgagagagagaattaaattt       c.*1680

          .         .         .         .         .         .       g.390266
 tctaatgggaattagaatatctggtttacctccaaattaagtttctttacaggaagttgg       c.*1740

          .         .         .         .         .         .       g.390326
 gaccagctggaaattgtattatcatttcggaacacaatattacttccttagagagagatg       c.*1800

          .         .         .         .         .         .       g.390386
 gatttttgttggcaacataaaagaataagtgatggggtatctatgtgagtaaatttttaa       c.*1860

          .         .         .         .         .         .       g.390446
 attccaagttaatatgcttgcaaacattactgctgcgttatggcaccaagagttggttga       c.*1920

          .         .         .         .         .         .       g.390506
 aattacccacgtagtcatactcctgtgctctgtcaccatggacttcacatcatttgctgc       c.*1980

          .         .         .         .         .         .       g.390566
 ccactagttcaatcgcatttaatcctagcaatatgtaagtttaaaggactgcattcccct       c.*2040

          .         .         .         .         .         .       g.390626
 ctactttaaagcttatatcctagatactcagtttgtgaccttggttgacctttggcattt       c.*2100

          .         .         .         .         .         .       g.390686
 cacgcaagttgaacagcaaaatcaaagcagccatttttaattcgtcattcccaagcccta       c.*2160

          .         .         .         .         .         .       g.390746
 tctgagtggttccaaagtcacctgagaggaaggtttaaattagtccctctcaccccacca       c.*2220

          .         .         .         .         .         .       g.390806
 ttgctataaaacagcaacgttttcattccaattcagccataaagaggtttctcttcttac       c.*2280

          .         .         .         .         .         .       g.390866
 tgggttttgaaatcatttccttttttctttcgtttgcccttcttccttcctgtgttgtac       c.*2340

          .         .         .         .         .         .       g.390926
 tatctctccaaccacgtctataagcagactcaatcttcttgcagaggaagatgagctggc       c.*2400

          .         .         .         .         .         .       g.390986
 actctgcaaacttctttaataaggacccaaagtttacttgacattaacctctagtaggtg       c.*2460

          .         .         .         .         .         .       g.391046
 agaaattccaaaaaagctttggggtacattagaatttccaaagctctgaaagatatttca       c.*2520

          .         .         .         .         .         .       g.391106
 ggagatttaacagcagagttgcaacttacacgtgaattctggtctatagtggtcatgtga       c.*2580

          .         .         .         .         .         .       g.391166
 gttaaattcgaatcctctacttgtatgaccctaggaatagattggaatactgcagaggac       c.*2640

          .         .         .         .         .         .       g.391226
 caaagctgaggcatgctaaacagctgcttggaggtggaagcaagttcagtcacctactca       c.*2700

          .         .         .         .         .         .       g.391286
 gcttcctctctccaccacccagttcctccctcagtatcacattatttttttcttctgctt       c.*2760

          .         .         .         .         .         .       g.391346
 ttcattaacctaactcatctcatcagtacaaccattttcttattctctaactacccccaa       c.*2820

          .         .         .         .         .         .       g.391406
 ttcctttagcctctccccacctgtccaaactcagctcagccgtgggccaatgcagcttac       c.*2880

          .         .         .         .         .         .       g.391466
 agacggttgcagagctaggaagaaaacccagctctcccaaccctgatcgtggaggtctct       c.*2940

          .         .         .         .         .         .       g.391526
 ggccccccaacactgccttctgggggctgcattttttttttttttttgagaagaggtctt       c.*3000

          .         .         .         .         .         .       g.391586
 ttgggatgcatggtgctccacatacagcttcacaaaatatttcattataagagaaacccc       c.*3060

          .         .         .         .         .         .       g.391646
 ttgatttttatttctttttcttttgttttctggattacctgccttcagtaagcagatgca       c.*3120

          .         .         .         .         .         .       g.391706
 gacccacttgtaaggagtctggttagtgatgagaaaaggatgaaatctagatacaaaagt       c.*3180

          .         .         .         .         .         .       g.391766
 caccttgaaggtgatgatggatctttaatccacttgactaagtgtctggaagagctactt       c.*3240

          .         .         .         .         .         .       g.391826
 gctcttccacccctcatctcaaatgagaggagcagaagtttaacttcctcaaatagccca       c.*3300

          .         .         .         .         .         .       g.391886
 gctctggctaaaacccaaagaagaaaggtcaaaggaagggaaagcatgtcaggggctggt       c.*3360

          .         .         .         .         .         .       g.391946
 ttgtgacttggcaggaccaggaaacagcagccactgacagcccagagaaggtgactaagg       c.*3420

          .         .         .         .         .         .       g.392006
 gctggcagaagattagaatgttaatttggctgctgtccggactaggaggccatgttcaat       c.*3480

          .         .         .         .         .         .       g.392066
 ggcagtcagaatttgtgttctgcgcattgctgggtctataaatatgataagcaagtggtg       c.*3540

          .         .         .         .         .         .       g.392126
 acagaattatagtataaggtgatgtactacatgcagatcataaaggctttggttttaaga       c.*3600

          .         .         .         .         .         .       g.392186
 cttaagtagaaaatccctctcctagcttattacccaacaatattcagataatgagctttt       c.*3660

          .         .         .         .         .         .       g.392246
 ggagaatatctttttcctatcactagaaagatttacctgggaactgtctaaagtctacac       c.*3720

          .         .         .         .         .         .       g.392306
 acatatttccaaagcctttaaataccaactgcagcatggagagagaggggtggcagaagc       c.*3780

          .         .         .         .         .         .       g.392366
 tgaaatgcctcaaaagccatttaagtgttacgttgcaggattttcagtccttctcgttat       c.*3840

          .         .         .         .         .         .       g.392426
 gtaaaagtagataaatatagacgttattctcaacactaccctatagtatcacagtggtcc       c.*3900

          .         .         .         .         .         .       g.392486
 aaatgccagagcttacagataatgtcatcacagtgcctagaaactcgaactgtaatatat       c.*3960

          .         .         .         .         .         .       g.392546
 cgtagcattttcttggtgtttcttaaagtttctttccacaatacaaggtcctctctgcct       c.*4020

          .         .         .         .         .         .       g.392606
 cttgtttcttggagagttcaccccactgatgagtcttccttccctgttggactcagtcat       c.*4080

          .         .         .         .         .         .       g.392666
 ttggggaacagtcttagaagcacatatcaaccaaggaagaaacttcctggatatctattg       c.*4140

          .         .         .         .         .         .       g.392726
 cccacttgcccaggtctaataaacactaaaggggggaaattgaaaggagctgccaactgg       c.*4200

          .         .         .         .         .         .       g.392786
 tcaacgtggaagggcggttccaccctagattggtgtctttctttttcttcctttttttaa       c.*4260

          .         .         .         .         .         .       g.392846
 aaaaaatctatttcttaaataataataaatgcacatgatgtgttaaatatgtacatatat       c.*4320

          .         .         .         .         .         .       g.392906
 atttcaaaagaaaaaatggggcacaagattgtcttacaagtcgtgctggctaatttttag       c.*4380

          .         .         .         .         .         .       g.392966
 tttgtattcataagtggtttttaaaagccttttttaaagtgtaatttgcatgttctactt       c.*4440

          .         .         .         .         .         .       g.393026
 tgattgtatgtaaacatattttagaacaaaaaatgtatttgtattttattgaatatagag       c.*4500

          .         .         .         .         .         .       g.393086
 gcaagaaaattgtacattgtttgaaatgttctttttgtaacagtttttattcataaagca       c.*4560

          .         .         .         .         .         .       g.393146
 tttttgtacatttaaaatgaacatggacttgctgttatttgaggcgtagatacatctagc       c.*4620

          .         .         .         .         .         .       g.393206
 atgcttactgtcatgctcctccatggtcttagatgttgggttttaaacatttttttctaa       c.*4680

          .         .         .         .         .         .       g.393266
 aagaaagctcagtcttttccgctaccagatcaggttagcacagtatagagcacttaacta       c.*4740

          .         .         .         .         .         .       g.393326
 ttaaaaaaaaaaagttaatcctattcatatgttattcattgtgtgaaattaaagacattc       c.*4800

          .                                                         g.393338
 aattcagtctaa                                                       c.*4812

 (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 SET binding protein 1 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.

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