(used for variant description)
(last modified March 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002242.4 in the KCNJ13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016742.1, covering KCNJ13 transcript NM_002242.4.
(upstream sequence)
. g.5017
agtccaagaagagaacc c.-121
. . . . . . g.5077
tacaaactagacttgtagattaaaattatctgatcaaaaaggcagactctgtaaatttcc c.-61
. . . . . | 02 . g.10203
ttaagacctaccttggcataaaggctgacccagcaaaagaactg | agaaatacagcctgag c.-1
. . . . . . g.10263
ATGGACAGCAGTAATTGCAAAGTTATTGCTCCTCTCCTAAGTCAAAGATACCGGAGGATG c.60
M D S S N C K V I A P L L S Q R Y R R M p.20
. . . . . . g.10323
GTCACCAAGGATGGCCACAGCACACTTCAAATGGATGGCGCTCAAAGAGGTCTTGCATAT c.120
V T K D G H S T L Q M D G A Q R G L A Y p.40
. . . . . . g.10383
CTTCGAGATGCTTGGGGAATCCTAATGGACATGCGCTGGCGTTGGATGATGTTGGTCTTT c.180
L R D A W G I L M D M R W R W M M L V F p.60
. . . . . . g.10443
TCTGCTTCTTTTGTTGTCCACTGGCTTGTCTTTGCAGTGCTCTGGTATGTTCTGGCTGAG c.240
S A S F V V H W L V F A V L W Y V L A E p.80
. . . . . . g.10503
ATGAATGGTGATCTGGAACTAGATCATGATGCCCCACCTGAAAACCACACTATCTGTGTC c.300
M N G D L E L D H D A P P E N H T I C V p.100
. . . . . . g.10563
AAGTATATCACCAGTTTCACAGCTGCATTCTCCTTCTCCCTGGAGACACAACTCACAATT c.360
K Y I T S F T A A F S F S L E T Q L T I p.120
. . . . . . g.10623
GGTTATGGTACCATGTTCCCCAGTGGTGACTGTCCAAGTGCAATCGCCTTACTTGCCATA c.420
G Y G T M F P S G D C P S A I A L L A I p.140
. . . . | 03 . . g.12772
CAAATGCTCCTAGGCCTCATGCTAGAGGCTTTTATCACAG | GTGCTTTTGTGGCGAAGATT c.480
Q M L L G L M L E A F I T G | A F V A K I p.160
. . . . . . g.12832
GCCCGGCCAAAAAATCGAGCTTTTTCAATTCGCTTTACTGACACAGCAGTAGTAGCTCAC c.540
A R P K N R A F S I R F T D T A V V A H p.180
. . . . . . g.12892
ATGGATGGCAAACCTAATCTTATCTTCCAAGTGGCCAACACCCGACCTAGCCCTCTAACC c.600
M D G K P N L I F Q V A N T R P S P L T p.200
. . . . . . g.12952
AGTGTCCGGGTCTCAGCTGTACTCTATCAGGAAAGAGAAAATGGCAAACTCTACCAGACC c.660
S V R V S A V L Y Q E R E N G K L Y Q T p.220
. . . . . . g.13012
AGTGTGGATTTCCACCTTGATGGCATCAGTTCTGACGAATGTCCATTCTTCATCTTTCCA c.720
S V D F H L D G I S S D E C P F F I F P p.240
. . . . . . g.13072
CTAACGTACTATCACTCCATTACACCATCAAGTCCTCTGGCTACTCTGCTCCAGCATGAA c.780
L T Y Y H S I T P S S P L A T L L Q H E p.260
. . . . . . g.13132
AATCCTTCTCACTTTGAATTAGTTGTATTCCTTTCAGCAATGCAGGAGGGCACTGGAGAA c.840
N P S H F E L V V F L S A M Q E G T G E p.280
. . . . . . g.13192
ATATGCCAAAGGAGGACATCCTACCTACCGTCTGAAATCATGTTACATCACTGTTTTGCA c.900
I C Q R R T S Y L P S E I M L H H C F A p.300
. . . . . . g.13252
TCTCTGTTGACCCGAGGTTCCAAAGGTGAATATCAAATCAAGATGGAGAATTTTGACAAG c.960
S L L T R G S K G E Y Q I K M E N F D K p.320
. . . . . . g.13312
ACTGTCCCTGAATTTCCAACTCCTCTGGTTTCTAAAAGCCCAAACAGGACTGACCTGGAT c.1020
T V P E F P T P L V S K S P N R T D L D p.340
. . . . . . g.13372
ATCCACATCAATGGACAAAGCATTGACAATTTTCAGATCTCTGAAACAGGACTGACAGAA c.1080
I H I N G Q S I D N F Q I S E T G L T E p.360
g.13375
TAA c.1083
X p.360
. . . . . . g.13435
gacttatccattttttaatgtattaaatacacccagccagttatgcagctactttttctt c.*60
. . . . . . g.13495
tactgtatctcatgttttcttttttcaatgctaattatagctctctacatcacggtaatc c.*120
. . . . . . g.13555
atgcctatgcctacataagaatggctgagctaacaatacacattctggaaacataacact c.*180
. . . . . . g.13615
ctacattacaaagtttgttacctgctgaaatcaatgtaactcaacttgacagacacttat c.*240
. . . . . . g.13675
acagaaatgttgctggtgaatttataagaatgtggtatgatactagtaatgaaggcaaaa c.*300
. . . . . . g.13735
tggacagtgaagtttaacacaactgaactctaagaaaatcaaccattaatctctcatttt c.*360
. . . . . . g.13795
catctgcaaattgaagcaacagtttagtttcaaacctagctccctgggtggaatgacgac c.*420
. . . . . . g.13855
ttcactatacttagtgaatatcctttaagagctgggatttttttcaagacaacaaagatc c.*480
. . . . . . g.13915
attcatttggttctttatactatgaaacttgagtaagtattacctccttaatttttaaca c.*540
. . . . . . g.13975
actaagaacaaaaattaacgagaaaaacaacaaagtacagatttatacataaacctaaaa c.*600
. . . . . . g.14035
gcatttgaacatgacacccgaacacatacatatatgttcacttatttgtggcagaaggtg c.*660
. . . . . . g.14095
atcagataagctccagcccaaatggaacctgtggggtggtattttgcattgcaaggagac c.*720
. . . . . . g.14155
gcaaaattttattttaaaactgtcctccataataatcaaacggtgattcatctaaatgac c.*780
. . . . . . g.14215
ttctagcaacctaagtaaaaacattcccctcctatgtatgattcatttgatcatataaaa c.*840
. . . . . . g.14275
catcatgatggctctaattcataaatacaaaaatatatttaagtctttatagatataaag c.*900
. . . . . . g.14335
ctttacttagatataacttgagtgagtagggaaaaaaatctacagtagataaagcaaaag c.*960
. . . . . . g.14395
ataattaggcaacaaagcattttcaaactcaaattcctgtttccaacttcaaatagtttt c.*1020
. . . . . . g.14455
ttctataaacacaaaatcagtgtttattcaccagtaggaggttggactagatgaactcta c.*1080
. . . . . . g.14515
ttatttctttctaaatctaatagtctataaaaattatgtttcctctgttttttattttat c.*1140
. . . . . . g.14575
ctatgctaaaatgagccctttcccttatgtccagtttaagatgatcatttgcatgatttt c.*1200
. . . . . . g.14635
catttcaataaaaaaaagagaaactgtccttaaaacaaaacaaaaaccaaaaaagtcacc c.*1260
. . . . . . g.14695
ctatcaggtttcaaacagatttgtggctgttcttttctgaaatttcccttattcaggttt c.*1320
. . . . . . g.14755
ctgtgggaaaaatgaaagattaaccttccccactggtgatgacctaggcaggaatcatct c.*1380
. . . . . . g.14815
cttgaaataaatactagctgagtaaaggcaagcaggtgtgaagagcagggctcagcagca c.*1440
. . . . . . g.14875
agtcacatttttctactatttgaccaaaaggaaaagaaaataaagaagaactctggagtg c.*1500
. . . . . . g.14935
gtctaagactgataatagcagaagaatatcaagaacacagaaacttaattattgtgaact c.*1560
. . . . . . g.14995
tttgctgtttgaaaatcttagacattcattcttaagtagaaatcagaccaacagattttc c.*1620
. . . . . . g.15055
ccaacccaagactattgtaacacataaagacagcaagaattcttatttctataataaatt c.*1680
. . . . . . g.15115
aacaagattcacctaacctttgaaaataaagtagtattgaagacttacatggtatgtttt c.*1740
. . . . . . g.15175
ttcctaaaggcactacatcacttacacagttcaccctctcgcttgttaagtgaagctgcc c.*1800
. . . . . . g.15235
caaggtgacataagtgaatgagtaaaacctgagatctaaggttccatttaagtcagatga c.*1860
. . . . . . g.15295
gtttcatattatacttactgtttataataaatttggcatttgaaaactaaatatgacttc c.*1920
. . . . . . g.15355
ccctacacatgccaaaaaaaactattggtaaactactgttatttaataaacactttataa c.*1980
. . . . . . g.15415
atctataagaaacgtgatccaaaacttttttgcaggagatagaaagtttctgggaggact c.*2040
. . . . . . g.15475
gttcattgtttctttcacttatttcaaatcacagtttctaggttaaggattaggttttct c.*2100
. . . . . . g.15535
atagaaagaccattatcctctgaggaaaaggaagtaacaatggaaaaagggcggaaatta c.*2160
. . . . . . g.15595
ctgggagggaggaatggctgctctgcctttctggatgtgcagctcactaacctggatcat c.*2220
. . . . . . g.15655
ctgggagcttggtcatgaagtcttgcacacatgatcaggaagactacttcggaactaact c.*2280
. . . . . . g.15715
ttaaacgttcctttggaaactgataaagatagcatgacagtttcaacaaactggaggcat c.*2340
. . . . g.15764
gtcgttacctaaaaatctcaggggcctagttttacatatgtacaagccc c.*2389
(downstream sequence)
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