(used for variant description)
(last modified February 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_021815.2 in the SLC5A7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042267.1, covering SLC5A7 transcript NM_021815.2.
(upstream sequence)
. . . g.5036
ctgcgccgcgcgccctccgccggcgccaacacctgt c.-241
. . . . . . g.5096
caactctgcgcgctcccaggttcttggagacgccgagtgaggagccgccctgaccgcccg c.-181
. . . . . . g.5156
gccccgctccgcactgcaccccgacccaccccgcaccctccctttctgcaccctcgcacc c.-121
. . . . . . g.5216
cacacccctcgcggttccagggggcggcggccccgggcggagcgctttcgcgtgcagcca c.-61
. | 02 . . . . g.6617
ccactccag | aagacttaatgaagtagccagctgcagaagaatctggatcattagataaaa c.-1
. . . . . . g.6677
ATGGCTTTCCATGTGGAAGGACTGATAGCTATCATCGTGTTCTACCTTCTAATTTTGCTG c.60
M A F H V E G L I A I I V F Y L L I L L p.20
. . . . . . g.6737
GTTGGAATATGGGCTGCCTGGAGAACCAAAAACAGTGGCAGCGCAGAAGAGCGCAGCGAA c.120
V G I W A A W R T K N S G S A E E R S E p.40
. . . . . | 03 g.10569
GCCATCATAGTTGGTGGCCGAGATATTGGTTTATTGGTTGGTGGATTTACCATGACAG | CT c.180
A I I V G G R D I G L L V G G F T M T A | p.60
. . . . . . g.10629
ACCTGGGTCGGAGGAGGGTATATCAATGGCACAGCTGAAGCAGTTTATGTACCAGGTTAT c.240
T W V G G G Y I N G T A E A V Y V P G Y p.80
. . . . . | 04 . g.11441
GGCCTAGCTTGGGCTCAGGCACCAATTGGATATTCTCTTAGTCTGATTTTAG | GTGGCCTG c.300
G L A W A Q A P I G Y S L S L I L G | G L p.100
. . . . . . g.11501
TTCTTTGCAAAACCTATGCGTTCAAAGGGGTATGTGACCATGTTAGACCCGTTTCAGCAA c.360
F F A K P M R S K G Y V T M L D P F Q Q p.120
. . . . . . g.11561
ATCTATGGAAAACGCATGGGCGGACTCCTGTTTATTCCTGCACTGATGGGAGAAATGTTC c.420
I Y G K R M G G L L F I P A L M G E M F p.140
. . | 05 . . . g.16331
TGGGCTGCAGCAATTTTCTCTGCTTTGG | GAGCCACCATCAGCGTGATCATCGATGTGGAT c.480
W A A A I F S A L G | A T I S V I I D V D p.160
. . . . . . g.16391
ATGCACATTTCTGTCATCATCTCTGCACTCATTGCCACTCTGTACACACTGGTGGGAGGG c.540
M H I S V I I S A L I A T L Y T L V G G p.180
. . . . . | 06. g.20361
CTCTATTCTGTGGCCTACACTGATGTCGTTCAGCTCTTTTGCATTTTTGTAGGGCTG | TGG c.600
L Y S V A Y T D V V Q L F C I F V G L | W p.200
. . . . . . g.20421
ATCAGCGTCCCCTTTGCATTGTCACATCCTGCAGTCGCAGACATCGGGTTCACTGCTGTG c.660
I S V P F A L S H P A V A D I G F T A V p.220
. . . . . . g.20481
CATGCCAAATACCAAAAGCCGTGGCTGGGAACTGTTGACTCATCTGAAGTCTACTCTTGG c.720
H A K Y Q K P W L G T V D S S E V Y S W p.240
. . | 07 . . . . g.24549
CTTGATAGTTTTCTGTTGTTG | ATGCTGGGTGGAATCCCATGGCAAGCATACTTTCAGAGG c.780
L D S F L L L | M L G G I P W Q A Y F Q R p.260
. . . . . . g.24609
GTTCTCTCTTCTTCCTCAGCCACCTATGCTCAAGTGCTGTCCTTCCTGGCAGCTTTCGGG c.840
V L S S S S A T Y A Q V L S F L A A F G p.280
. . . . . | 08 . g.26931
TGCCTGGTGATGGCCATCCCAGCCATACTCATTGGGGCCATTGGAGCATCAACAG | ACTGG c.900
C L V M A I P A I L I G A I G A S T D | W p.300
. . . . . . g.26991
AACCAGACTGCATATGGGCTTCCAGATCCCAAGACTACAGAAGAGGCAGACATGATTTTA c.960
N Q T A Y G L P D P K T T E E A D M I L p.320
. . . . . . g.27051
CCAATTGTTCTGCAGTATCTCTGCCCTGTGTATATTTCTTTCTTTGGTCTTGGTGCAGTT c.1020
P I V L Q Y L C P V Y I S F F G L G A V p.340
. . . . . . g.27111
TCTGCTGCTGTTATGTCATCAGCAGATTCTTCCATCTTGTCAGCAAGTTCCATGTTTGCA c.1080
S A A V M S S A D S S I L S A S S M F A p.360
. . . | 09 . . . g.28720
CGGAACATCTACCAGCTTTCCTTCAGACAAAAT | GCTTCGGACAAAGAAATCGTTTGGGTT c.1140
R N I Y Q L S F R Q N | A S D K E I V W V p.380
. . . . . . g.28780
ATGCGAATCACAGTGTTTGTGTTTGGAGCATCTGCAACAGCCATGGCCTTGCTGACGAAA c.1200
M R I T V F V F G A S A T A M A L L T K p.400
. . . . . . g.28840
ACTGTGTATGGGCTCTGGTACCTCAGTTCTGACCTTGTTTACATCGTTATCTTCCCCCAG c.1260
T V Y G L W Y L S S D L V Y I V I F P Q p.420
. . . . . . g.28900
CTGCTTTGTGTACTCTTTGTTAAGGGAACCAACACCTATGGGGCCGTGGCAGGTTATGTT c.1320
L L C V L F V K G T N T Y G A V A G Y V p.440
. . . . . . g.28960
TCTGGCCTCTTCCTGAGAATAACTGGAGGGGAGCCATATCTGTATCTTCAGCCCTTGATC c.1380
S G L F L R I T G G E P Y L Y L Q P L I p.460
. . . . . . g.29020
TTCTACCCTGGCTATTACCCTGATGATAATGGTATATATAATCAGAAATTTCCATTTAAA c.1440
F Y P G Y Y P D D N G I Y N Q K F P F K p.480
. . . . . . g.29080
ACACTTGCCATGGTTACATCATTCTTAACCAACATTTGCATCTCCTATCTAGCCAAGTAT c.1500
T L A M V T S F L T N I C I S Y L A K Y p.500
. . . . . . g.29140
CTATTTGAAAGTGGAACCTTGCCACCTAAATTAGATGTATTTGATGCTGTTGTTGCAAGA c.1560
L F E S G T L P P K L D V F D A V V A R p.520
. . . . . . g.29200
CACAGTGAAGAAAACATGGATAAGACAATTCTTGTCAAAAATGAAAATATTAAATTAGAT c.1620
H S E E N M D K T I L V K N E N I K L D p.540
. . . . . . g.29260
GAACTTGCACTTGTGAAGCCACGACAGAGCATGACCCTCAGCTCAACTTTCACCAATAAA c.1680
E L A L V K P R Q S M T L S S T F T N K p.560
. . . . . . g.29320
GAGGCCTTCCTTGATGTTGATTCCAGTCCAGAAGGGTCTGGGACTGAAGATAATTTACAG c.1740
E A F L D V D S S P E G S G T E D N L Q p.580
g.29323
TGA c.1743
X p.580
. . . . . . g.29383
ccccatctaaataaaatactgcttttgcaaacagaacactgtaatagggtagttctggag c.*60
. . . . . . g.29443
agatggtatgcagcatacaaaaatatattaaaaatataaacaatgttcaggagagtaaaa c.*120
. . . . . . g.29503
attcatataaagtgcaattgcacaaatacaagccaagctagaaggaagcacctatgaaag c.*180
. . . . . . g.29563
caacaactttgtttctcatccatagtagtattgattttgatgctagatagttttgctagg c.*240
. . . . . . g.29623
tataaaaaataagtaaagttccacttagagaacaaagggccaaatagagtttttatattt c.*300
. . . . . . g.29683
gttatgataaaaggaagtagatgtgaaaaagcctaagaaaaaggaaattggacagttttg c.*360
. . . . . . g.29743
atacaaactttgtttgctaatgcactgatgagtctagtttcattatagcacgaagctatg c.*420
. . . . . . g.29803
agaataacttcagtcactcccttgaatggtgcaatgaattaaccagctgatttttcttag c.*480
. . . . . . g.29863
tgtgatgattaaccccttctttcatgttctgagctataacatttgctgaatatgcaattt c.*540
. . . . . . g.29923
gttattcttttattaatggcatgtaatattctgagcacgggcaaagaaaacacacaaaag c.*600
. . . . . . g.29983
attatgtattggcatttatttatgtgcaaggtgataggaaaactgaatccatctttgtag c.*660
. . . . . . g.30043
aagagcactgggctaatttgtatgtttccatagctactatatgcataaacaacagtacct c.*720
. . . . . . g.30103
gaaggattattaagcaaccttaaagcaataagttcattaaacagaaggtaataggaagaa c.*780
. . . . . . g.30163
cagtacatttttgtctttatctcaagtatataaagttttgccccatgataaaataagtaa c.*840
. . . . . . g.30223
catataaattaatacataagttaatattggaagtgaaattaggccttatgtaaggagagg c.*900
. . . . . . g.30283
tagctacacagcatctgttacggttaatgagaggcacactgctaaatttacgtatatttc c.*960
. . . . . . g.30343
attgaatactttatgggaagcctccacaacacctcctgatagtagtaaaattagaaaaaa c.*1020
. . . . . . g.30403
acaaactctactaatttttagatattcattaataggaaagatttaatgttacagcatcta c.*1080
. . . . . . g.30463
ctctttggcactttttcacataagccagccttagagactagacaaataactactgcaaaa c.*1140
. . . . . . g.30523
agtacatagtgaattttaaaatgtagaagaaagcaaaaaataaaataagtcctaaagtga c.*1200
. . . . . . g.30583
agaagccatcaattttaacatttgatgtctagataacattcatgagattggtcattaaat c.*1260
. . . . . . g.30643
actattttgctccttttctggtgttacacatacacactcatacgtgtgtgtgtgtgtatg c.*1320
. . . . . . g.30703
tgtgtgtgtgtatgtgtaatgatttgtgtccatttcaagtgttttcacaccagtcacaca c.*1380
. . . . . . g.30763
ttatagaaattactggagccatgtctacaaaagcaaagtgaagtgatgagctgaaaagtg c.*1440
. . . . . . g.30823
atcagggaatctgatcccataaagaaagtgagtctgaattgttgaaactaaagcacttct c.*1500
. . . . . . g.30883
tttccaaaaatacttctgcaactcatgaacaaaatgaagttaacttagtgtttagcatta c.*1560
. . . . . . g.30943
aaaataaaagttgtaccttgaccctagaattccttttataagatttaattgtaattgtct c.*1620
. . . . . . g.31003
caaagcatcaaataatacatctttatcattaaacatgaatttaatgtctaggataatttt c.*1680
. . . . . . g.31063
taaaagaggaaattaaataattttacatgtctcatattttcagtgctttctcaaaatttg c.*1740
. . . . . . g.31123
atggtgaatattacattgcattcaaaatcttcactgaatatcatatgtatctaaatgaaa c.*1800
. . . . . . g.31183
agagaattacttatattcatctattttctcagaatctattcagtaccctatggagtacat c.*1860
. . . . . . g.31243
ggaagaagtatatttttggaaccagtaagtatgggagtccacgattctcaggtattgatt c.*1920
. . . . . . g.31303
gaaaaaagagaaaggggcaagaaattcattaaagaaaaaccacagatactgaaacatttg c.*1980
. . . . . . g.31363
acacataaaagtaattaattgctggagactacaattcctggcaaacaccattattccaga c.*2040
. . . . . . g.31423
tgcaccatgctacccagcatgctacctgaatggcggtttttatccatcctgtcaccctga c.*2100
. . . . . . g.31483
gcatctgtctcaacctgctgaggcacagacttccaccatgtgcatcaggaaacacctcac c.*2160
. . . . . . g.31543
tcatactgtcatataatgcaacagggaggcatagtctctctacaggtctctctctttacg c.*2220
. . . . . . g.31603
ttgtaccattctgttgggcaacaattgtcccaacaaccacacttaaatccagtggggaaa c.*2280
. . . . . . g.31663
aaaaggttaacagtaaaaatttcttccacgtaattcaatttctcacaatagacagaaaca c.*2340
. . . . . . g.31723
gggggaaaatgtttgccctgttcaaagtactaaaactagataacttaaataatttaagcc c.*2400
. . . . . . g.31783
aataaataatattatattgtatttaacccattattcctcacctaccctcaaagtaggtat c.*2460
. . . . . . g.31843
acaaaagactagtttgttattaatccacaaatatgctaaatgttagcaagatgattttta c.*2520
. . . . . . g.31903
agtacaaaaaagtttaagattgcaaggaaggaaacaatggtcacaaggtctttacttatg c.*2580
. . . . . . g.31963
cacatttgtgcataaatttccacccaatttccaagacagttgtatcacaaagctgtgaaa c.*2640
. . . . . . g.32023
tgtgcaagagtatactttgtacccatcatgtgctctgttttgacataatgagtaatgcag c.*2700
. . . . . . g.32083
acatttacatgttcttccagcttcaatcagtagacctgattttcaaaatctgccctcaga c.*2760
. . . . . . g.32143
tgaaaataaaataaacgaaacatttagacaatggctatattaatctgggaaggcaacacc c.*2820
. . . . . . g.32203
tgtggataaaacattagaagaaaacatatattttattttcatacttttgatatgattgta c.*2880
. . . . . . g.32263
acatatttcttgagtaatttaaatgctttgttttcccacacatattcaaatcagcaagct c.*2940
. . . . . . g.32323
tgtagctggactgcaatatcaacaacaagttgtttcaaacagcatcaaaatacaacttca c.*3000
. . . . . . g.32383
ttgctacacttacaagtaatgaattttatgtgactatgaaacgaatataagcttaaaata c.*3060
. . . . . . g.32443
agtgaatctaataaaatggctattcctctttttacttggaaataataaattaacattata c.*3120
g.32445
tt c.*3122
(downstream sequence)
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