(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_012434.4 in the SLC17A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering SLC17A5 transcript NM_012434.4.
(upstream sequence)
g.5008
gtggccgc c.-121
. . . . . . g.5068
ggggcggtgtcatcgcccccgccccgcccggtccagccagctcggcccgggggcttcggg c.-61
. . . . . . g.5128
ctgtcgggccggcgctcccttctctgccaggtggcgagtacacctgctcacgtaggcgtc c.-1
. . . . . . g.5188
ATGAGGTCTCCGGTTCGAGACCTGGCCCGGAACGATGGCGAGGAGAGCACGGACCGCACG c.60
M R S P V R D L A R N D G E E S T D R T p.20
. . . | 02 . . . g.14437
CCTCTTCTACCGGGCGCCCCACGGGCCGAAGCCG | CTCCAGTGTGCTGCTCTGCTCGTTAC c.120
P L L P G A P R A E A A | P V C C S A R Y p.40
. . . . . . g.14497
AACTTAGCAATTTTGGCCTTTTTTGGTTTCTTCATTGTGTATGCATTACGTGTGAATCTG c.180
N L A I L A F F G F F I V Y A L R V N L p.60
. . . . . . g.14557
AGTGTTGCGTTAGTGGATATGGTAGATTCAAATACAACTTTAGAAGATAATAGAACTTCC c.240
S V A L V D M V D S N T T L E D N R T S p.80
. . . . . | 03 . g.17099
AAGGCGTGTCCAGAGCATTCTGCTCCCATAAAAGTTCATCATAATCAAACG | GGTAAGAAG c.300
K A C P E H S A P I K V H H N Q T | G K K p.100
. . . . . . g.17159
TACCAATGGGATGCAGAAACTCAAGGATGGATTCTCGGTTCCTTTTTTTATGGCTACATC c.360
Y Q W D A E T Q G W I L G S F F Y G Y I p.120
. . . . . . g.17219
ATCACACAGATTCCTGGAGGATATGTTGCCAGCAAAATAGGGGGGAAAATGCTGCTAGGA c.420
I T Q I P G G Y V A S K I G G K M L L G p.140
. . . . . . g.17279
TTTGGGATCCTTGGCACTGCTGTCCTCACCCTGTTCACTCCCATTGCTGCAGATTTAGGA c.480
F G I L G T A V L T L F T P I A A D L G p.160
. . . . | 04 . . g.20530
GTTGGACCACTCATTGTACTCAGAGCACTAGAAGGACTAGGAGAG | GGTGTTACATTTCCA c.540
V G P L I V L R A L E G L G E | G V T F P p.180
. . . . . . g.20590
GCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCTTGAAAGAAGCAAACTTCTTAGC c.600
A M H A M W S S W A P P L E R S K L L S p.200
. | 05 . . . . . g.22354
ATTTCATATGCAG | GAGCACAGCTTGGGACAGTAATTTCTCTTCCTCTTTCTGGAATAATT c.660
I S Y A G | A Q L G T V I S L P L S G I I p.220
. . . . | 06 . . g.23534
TGCTACTATATGAATTGGACTTATGTCTTCTACTTTTTTG | GTACTATTGGAATATTTTGG c.720
C Y Y M N W T Y V F Y F F G | T I G I F W p.240
. . . . . . g.23594
TTTCTTTTGTGGATCTGGTTAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCAT c.780
F L L W I W L V S D T P Q K H K R I S H p.260
. . . | 07 . . g.37073
TATGAAAAGGAATACATTCTTTCATCATTAAGAAATCAG | CTTTCTTCACAGAAGTCAGTG c.840
Y E K E Y I L S S L R N Q | L S S Q K S V p.280
. . . . . . g.37133
CCGTGGGTACCCATTTTAAAATCCCTGCCACTTTGGGCTATCGTAGTTGCACACTTTTCT c.900
P W V P I L K S L P L W A I V V A H F S p.300
. . . . . . g.37193
TACAACTGGACTTTTTATACTTTATTGACATTATTGCCTACTTATATGAAGGAGATCCTA c.960
Y N W T F Y T L L T L L P T Y M K E I L p.320
. | 08 . . . . g.43609
AGGTTCAATGTTCAAGAG | AATGGGTTTTTATCTTCATTGCCTTATTTAGGCTCTTGGTTA c.1020
R F N V Q E | N G F L S S L P Y L G S W L p.340
. . . . . . g.43669
TGTATGATCCTGTCTGGTCAAGCTGCTGACAATTTAAGGGCAAAATGGAATTTTTCAACT c.1080
C M I L S G Q A A D N L R A K W N F S T p.360
. . . | 09 . . . g.48496
TTATGTGTTCGCAGAATTTTTAGCCTTATAG | GAATGATTGGACCTGCAGTATTCCTGGTA c.1140
L C V R R I F S L I G | M I G P A V F L V p.380
. . . . . . g.48556
GCTGCTGGCTTCATTGGCTGTGATTATTCTTTGGCCGTTGCTTTCCTAACTATATCAACA c.1200
A A G F I G C D Y S L A V A F L T I S T p.400
. . . . . | 10 g.58574
ACACTGGGAGGCTTTTGCTCTTCTGGATTTAGCATCAACCATCTGGATATTGCTCCTTC | G c.1260
T L G G F C S S G F S I N H L D I A P S | p.420
. . . . . . g.58634
TATGCTGGTATCCTCCTGGGCATCACAAATACATTTGCCACTATTCCAGGAATGGTTGGG c.1320
Y A G I L L G I T N T F A T I P G M V G p.440
. . . | 11 . . . g.63830
CCCGTCATTGCTAAAAGTCTGACCCCTGAT | AACACTGTTGGAGAATGGCAAACCGTGTTC c.1380
P V I A K S L T P D | N T V G E W Q T V F p.460
. . . . . . g.63890
TATATTGCTGCTGCTATTAATGTTTTTGGTGCCATTTTCTTTACACTATTCGCCAAAGGT c.1440
Y I A A A I N V F G A I F F T L F A K G p.480
. . . . g.63938
GAAGTACAAAACTGGGCTCTCAATGATCACCATGGACACAGACACTGA c.1488
E V Q N W A L N D H H G H R H X p.495
. . . . . . g.63998
aggaaccaataaataatcctgcctctattaatgtatttttatttatcatgtaacctcaaa c.*60
. . . . . . g.64058
gtgccttctgtattgtgtaagcattctatgtctttttttaattgtacttgtattagattt c.*120
. . . . . . g.64118
ttaaggcctataatcatgaaatatcactagttgccagaataataaaatgaactgtgttta c.*180
. . . . . . g.64178
attatgaataatatgtaagctaggacttctactttaggttcacatacctgcctgctagtc c.*240
. . . . . . g.64238
gggcaacatgaagtaggacagttctgttgattttttagggccatactaaagggaatgagc c.*300
. . . . . . g.64298
tgaaacagacctcctgatacctttgcttaattaaactagatgataattctcaggtactga c.*360
. . . . . . g.64358
taaacacctgttgttgttcactttcctcataaaaattgtcagctctctctgacacttaga c.*420
. . . . . . g.64418
cctcaaactttagcatctctgtggagctgccatccactgtataatttcgcctggcaactg c.*480
. . . . . . g.64478
gactgaggggagtgtgcccaggcagctgccaagcactccctccctggcttcagggtcaga c.*540
. . . . . . g.64538
gtgcccagcgtttatcagaggcagcatccaagcccagagccagtgtcgactcttcggctg c.*600
. . . . . . g.64598
gtgcctttcctctgaggggctatcaatgtgtagataaagccctgagtaggcaagagcagt c.*660
. . . . . . g.64658
gagatccactgctatggtcttgatacatcctcaaactttcccttcccagcacagaggaat c.*720
. . . . . . g.64718
attggctggcatgcaacctgcaaaagaaaaatgcgaagcggccgggcacggtggctcatg c.*780
. . . . . . g.64778
cctgtaatcccagcactttggggggctgaggtgggcgaatcatgagatcaggagttcgag c.*840
. . . . . . g.64838
accagcctggccagcatggtgaaaccccatctctactaaaaatacaaaaaattagctggg c.*900
. . . . . . g.64898
cgtggtgacgggcgcctgtaatcccagatactcaggaggctgaggtaggagaatcacttg c.*960
. . . . . . g.64958
aacctgggaggtggaagttgcagtgaaccaagatcacgccactgcactccagcctgggcg c.*1020
. . . . . . g.65018
atggagcgagactccaactcaaaaaaaaaaaaagaataaagaaagaaaagtgcgatgccc c.*1080
. . . . . . g.65078
agtcaatcacaaataagatcatcctggtttaaatctactctcacatggatcacagtataa c.*1140
. . . . . . g.65138
atttctatgtgctgtgttttgttcgtttgtattttgtagagatggggtctcgttttgtcg c.*1200
. . . . . . g.65198
cccaggctggttttgaactcctggcttcaagcgatcctcctgtctcggcctcacaaagtg c.*1260
. . . . . . g.65258
ttgagactacaggcatgagccactgtgcccagcctgttctatgtttttaagctacacgag c.*1320
. . . . . . g.65318
aattttttttttaattaattctcactgtttgttcagtctgtcttcatctaagtttgtgtt c.*1380
. . . . . . g.65378
gcagtttaaagttaaagtgacttttaaaggccacatcacctgagactagggtaatcatct c.*1440
. . . . . . g.65438
ttacttctggttcctgaaatcatatttttccagtggaccatcctccagtggctgtggttg c.*1500
. . . . . . g.65498
ttgagcatgctttcagaacacctatgtggcttaaaacttagtttatgttttgtgttcaac c.*1560
. . . . . . g.65558
actacgtgtaatattttaaaactgtttaatgtgatgtgaatacatttatgtacatttatt c.*1620
. . . . . . g.65618
tttaaatttgtaaatagctttaaattgctatggcaatgtttcttttataaatcatcaaaa c.*1680
. g.65636
taaacctttgtgaattga c.*1698
(downstream sequence)
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