(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005629.3 in the SLC6A8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012016.1, covering SLC6A8 transcript NM_005629.3.
(upstream sequence)
. . . g.5038
gccgggccccgccgccgcccgcgcgcccccgggccccc c.-241
. . . . . . g.5098
gacacacatgagattcttcaggctcactttcaagtgcttcgtggactgcttctgactgcg c.-181
. . . . . . g.5158
ccgcccgcgccccgcaccccgccgcccgcccgccgccccgtcccccggcccggccgcccc c.-121
. . . . . . g.5218
ccggcccccggccggcccgcgccctcggggccctccccggtgccgccggtgccccccgcc c.-61
. . . . . . g.5278
tgaccgccgccccccgtgaggcgccgcgaccccggcccggccgtgcggcccgccgaggcc c.-1
. . . . . . g.5338
ATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGC c.60
M A K K S A E N G I Y S V S G D E K K G p.20
. . . . . . g.5398
CCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTG c.120
P L I A P G P D G A P A K G D G P V G L p.40
. . . . . . g.5458
GGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGAC c.180
G T P G G R L A V P P R E T W T R Q M D p.60
. . . . . . g.5518
TTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTAC c.240
F I M S C V G F A V G L G N V W R F P Y p.80
. . | 02 . . . . g.7116
CTGTGCTACAAGAACGGCGGAG | GTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTT c.300
L C Y K N G G G | V F L I P Y V L I A L V p.100
. . . . . . g.7176
GGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGC c.360
G G I P I F F L E I S L G Q F M K A G S p.120
. . . | 03 . . . g.8033
ATCAATGTCTGGAACATCTGTCCCCTGTTCAAAG | GCCTGGGCTACGCCTCCATGGTGATC c.420
I N V W N I C P L F K G | L G Y A S M V I p.140
. . . . . . g.8093
GTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTC c.480
V F Y C N T Y Y I M V L A W G F Y Y L V p.160
. . . . . . g.8153
AAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGAC c.540
K S F T T T L P W A T C G H T W N T P D p.180
. . . . . . g.8213
TGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGT c.600
C V E I F R H E D C A N A S L A N L T C p.200
. . . . | 04 . . g.8694
GACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGA | GAACAAAGTCTTGAGG c.660
D Q L A D R R S P V I E F W E | N K V L R p.220
. . . . . . g.8754
CTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTG c.720
L S G G L E V P G A L N W E V T L C L L p.240
. . . . . | 05. g.9747
GCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAG | ATC c.780
A C W V L V Y F C V W K G V K S T G K | I p.260
. . . . . . g.9807
GTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTG c.840
V Y F T A T F P Y V V L V V L L V R G V p.280
. . . . . . g.9867
CTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTG c.900
L L P G A L D G I I Y Y L K P D W S K L p.300
. | 06 . . . . . g.10014
GGGTCCCCTCAG | GTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGC c.960
G S P Q | V W I D A G T Q I F F S Y A I G p.320
. . . . . | 07 . g.10169
CTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAA | GGAC c.1020
L G A L T A L G S Y N R F N N N C Y K | D p.340
. . . . . . g.10229
GCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTC c.1080
A I I L A L I N S G T S F F A G F V V F p.360
. . . . . . g.10289
TCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCA c.1140
S I L G F M A A E Q G V H I S K V A E S p.380
| 08 . . . . . . g.10667
G | GGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCA c.1200
G | P G L A F I A Y P R A V T L M P V A P p.400
. . . . . | 09 . g.10839
CTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAG | TTTGTA c.1260
L W A A L F F F M L L L L G L D S Q | F V p.420
. . . . . . g.10899
GGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGT c.1320
G V E G F I T G L L D L L P A S Y Y F R p.440
. . . . . . g.10959
TTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCC c.1380
F Q R E I S V A L C C A L C F V I D L S p.460
. | 10 . . . . . g.11095
ATGGTGACTGAT | GGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGC c.1440
M V T D | G G M Y V F Q L F D Y Y S A S G p.480
. . . . . | 11 . g.11241
ACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACG | GAGCT c.1500
T T L L W Q A F W E C V V V A W V Y G | A p.500
. . . . . . g.11301
GACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAA c.1560
D R F M D D I A C M I G Y R P C P W M K p.520
. . . | 12 . . . g.11446
TGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATG | GGCATCTTCATCTTCAACGTTGTG c.1620
W C W S F F T P L V C M | G I F I F N V V p.540
. . . . . . g.11506
TACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATG c.1680
Y Y E P L V Y N N T Y V Y P W W G E A M p.560
. . . . . . g.11566
GGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTC c.1740
G W A F A L S S M L C V P L H L L G C L p.580
. . | 13. . . . g.11810
CTCAGGGCCAAGGGCACCATGGCTGAG | CGCTGGCAGCACCTGACCCAGCCCATCTGGGGC c.1800
L R A K G T M A E | R W Q H L T Q P I W G p.600
. . . . . . g.11870
CTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACC c.1860
L H H L E Y R A Q D A D V R G L T T L T p.620
. . . . g.11918
CCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGA c.1908
P V S E S S K V V V V E S V M X p.635
. . . . . . g.11978
caactcagctcacatcaccagctcacctctggtagccatagcagcccctgcttcagcccc c.*60
. . . . . . g.12038
accgcacccctccagggggcctgcctttccctgacacttttggggtctgcctgggggagg c.*120
. . . . . . g.12098
aggggagaaagcaccatgagtgctcactaaaacaactttttccatttttaataaaacgcc c.*180
. . . . . . g.12158
aaaaatatcacaacccaccaaaaatagatgcctctccccctccagccctagccgagctgg c.*240
. . . . . . g.12218
tcctaggccccgcctagtgccccacccccacccacagtgctgcactcctcctgcccctgc c.*300
. . . . . . g.12278
cacgcccaccccctgcccacctctccaggctctgctctgcagcacacccgtgggtgaccc c.*360
. . . . . . g.12338
ctcaccccagaagcagcagtggcagcttgggaaatgtgaggaagggaaggagggagagac c.*420
. . . . . . g.12398
gggagggaggagagagaggagaagggaggcaggggaggggcagcagaaccaaggcaaata c.*480
. . . . . . g.12458
tttcagctgggctatacccctctccccatccctgttatagaagcttagagagccagccag c.*540
. . . . . . g.12518
caatggaaccttctggttcctgcgccaatcgccaccagtatcaattgtgtgagcttgggt c.*600
. . . . . . g.12578
gcgagtgcacgcgtgcgtgagtacggagagtatatatagatctctatctcttagcaaagg c.*660
. . . . . . g.12638
tgaatgccagatgtaaatggcgcctctgggcaaaggaggcttgtattttgcacattttat c.*720
. . . . . . g.12698
aaaaacttgagagaatgagatttctgcttgtatatttctaaaaagaggaaggagcccaaa c.*780
. . . . . . g.12758
ccatcctctccttaccactcccatccctgtgagccctaccttacccctctgcccctagcc c.*840
. . . . . . g.12818
aaggagtgtgaatttatagatctaactttcataggcaaaacaaaagcttcgagctgttgc c.*900
. . . . . . g.12878
gtgtgtgagtctgttgtgtggatgtgcgtgtgtggtccccagccccagactggattggaa c.*960
. . . . . . g.12938
aagtgcatggtgggggcctcggggctgtccccacgctgtccctttgccacaagtctgtgg c.*1020
. . . . . . g.12998
ggcaagaggctgcaatattccgtcctgggtgtctgggctgctaacctggcctgctcaggc c.*1080
. . . . . . g.13058
ttcccaccctgtgcggggcacacccccaggaagggaccctggacacggctcccacgtcca c.*1140
. . . . . . g.13118
ggcttaaggtggatgcacttcccgcacctccagtcttctgtgtagcagctttaacccacg c.*1200
. . . . . . g.13178
tttgtctgtcacgtccagtcccgagacggctgagtgaccccaagaaaggcttccccgaca c.*1260
. . . . . . g.13238
cccagacagaggctgcagggctggggctgggtgagggtggcgggcctgcggggacattct c.*1320
. . . . . g.13297
actgtgctaaaaagccactgcagacatagcaataaaaacatgtcattttccaaagcagg c.*1379
(downstream sequence)
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