(used for variant description)
(last modified June 2, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001042537.1 in the SLC9A6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017160.1, covering SLC9A6 transcript NM_001042537.1.
(upstream sequence)
. g.5016
tttcccgtgagccctc c.-61
. . . . . . g.5076
ggggagtggtccgaccgcgggcggccgccggtgaggtaggggcgggaggcggggggagac c.-1
. . . . . . g.5136
ATGGCTCGGCGCGGCTGGCGGCGGGCACCCCTCCGCCGTGGCGTCGGCAGCAGTCCCCGA c.60
M A R R G W R R A P L R R G V G S S P R p.20
. . . . . . g.5196
GCCCGCAGGCTCATGCGGCCCCTTTGGTTGCTCCTCGCAGTGGGCGTCTTTGACTGGGCA c.120
A R R L M R P L W L L L A V G V F D W A p.40
. . . . . . g.5256
GGGGCTTCGGACGGCGGCGGCGGAGAGGCTAGAGCCATGGACGAGGAGATCGTGTCCGAG c.180
G A S D G G G G E A R A M D E E I V S E p.60
. . . . . . g.5316
AAGCAAGCCGAGGAGAGCCACCGGCAGGACAGCGCCAACCTGCTCATCTTCATCCTGCTG c.240
K Q A E E S H R Q D S A N L L I F I L L p.80
. . . . . . g.5376
CTCACCCTCACCATTCTCACAATCTGGCTCTTCAAGCACCGCCGGGCCCGCTTCCTGCAC c.300
L T L T I L T I W L F K H R R A R F L H p.100
. . | 02 . . . . g.14394
GAAACCGGCCTGGCTATGATTTATG | GTCTTTTGGTGGGCCTTGTGCTTCGGTATGGCATT c.360
E T G L A M I Y G | L L V G L V L R Y G I p.120
. . . . . . g.14454
CATGTTCCGAGTGATGTAAATAATGTGACCCTGAGCTGTGAAGTGCAGTCAAGTCCAACT c.420
H V P S D V N N V T L S C E V Q S S P T p.140
. . . . . . g.14514
ACCTTACTGGTAAATGTTAGTGGAAAATTTTATGAGTATATGCTGAAAGGAGAGATTAGT c.480
T L L V N V S G K F Y E Y M L K G E I S p.160
. . . . | 03 . . g.17696
TCACATGAACTCAATAATGTTCAAGATAATGAAATGCTTAGAAAG | GTTACTTTTGATCCA c.540
S H E L N N V Q D N E M L R K | V T F D P p.180
. . . . . . g.17756
GAAGTATTTTTCAACATATTACTTCCTCCTATCATATTTTATGCAGGTTATAGCCTGAAA c.600
E V F F N I L L P P I I F Y A G Y S L K p.200
| 04 . . . . . . g.18112
AGG | AGACATTTTTTTCGAAATCTTGGGTCTATCCTAGCATACGCTTTTCTTGGAACAGCA c.660
R | R H F F R N L G S I L A Y A F L G T A p.220
. . | 05 . . . . g.18469
ATTTCTTGTTTCGTTATTGG | GTCAATAATGTATGGCTGTGTAACGCTGATGAAGGTAACG c.720
I S C F V I G | S I M Y G C V T L M K V T p.240
. . . . . . g.18529
GGACAACTTGCAGGAGATTTTTACTTTACAGATTGCCTACTGTTTGGTGCCATTGTATCA c.780
G Q L A G D F Y F T D C L L F G A I V S p.260
. | 06 . . . . . g.21728
GCAACTGATCCAG | TGACTGTTCTTGCTATATTCCACGAGCTTCAAGTTGATGTTGAACTC c.840
A T D P V | T V L A I F H E L Q V D V E L p.280
. . . . . | 07 g.30016
TATGCACTTCTTTTTGGTGAAAGTGTCCTCAATGATGCTGTTGCCATAGTGCTGTCCTC | C c.900
Y A L L F G E S V L N D A V A I V L S S | p.300
. . . . . . g.30076
TCAATAGTGGCATACCAGCCAGCTGGAGACAACAGTCACACCTTTGATGTCACAGCGATG c.960
S I V A Y Q P A G D N S H T F D V T A M p.320
. . . . . . g.30136
TTCAAGTCTATTGGGATCTTCCTTGGAATCTTCAGTGGATCTTTTGCAATGGGTGCTGCT c.1020
F K S I G I F L G I F S G S F A M G A A p.340
. . | 08 . . . . g.32561
ACTGGAGTGGTGACAGCTTTA | GTGACAAAGTTCACCAAATTACGGGAGTTCCAGTTGTTG c.1080
T G V V T A L | V T K F T K L R E F Q L L p.360
. . . . . . g.32621
GAGACAGGCCTGTTCTTCTTGATGTCCTGGAGTACCTTCCTCTTGGCTGAAGCATGGGGC c.1140
E T G L F F L M S W S T F L L A E A W G p.380
| 09. . . . . . g.32975
TTCACAG | GTGTAGTTGCAGTATTGTTTTGTGGCATCACACAAGCACATTATACGTATAAT c.1200
F T G | V V A V L F C G I T Q A H Y T Y N p.400
. . . | 10 . . . g.36242
AATTTGTCCACGGAGTCTCAGCATAGAACTAAACAG | TTGTTTGAGCTTCTCAATTTCTTG c.1260
N L S T E S Q H R T K Q | L F E L L N F L p.420
. . . . . . g.36302
GCAGAGAATTTCATCTTCTCCTACATGGGGCTGACACTGTTCACCTTCCAGAACCATGTC c.1320
A E N F I F S Y M G L T L F T F Q N H V p.440
. . . | 11 . . . g.42189
TTTAACCCAACATTTGTAGTAGGAGCATTT | GTTGCTATTTTCTTGGGAAGAGCTGCCAAT c.1380
F N P T F V V G A F | V A I F L G R A A N p.460
. . . . . . g.42249
ATTTACCCCTTGTCCCTCTTACTTAATTTGGGTAGAAGAAGTAAGATTGGATCAAATTTT c.1440
I Y P L S L L L N L G R R S K I G S N F p.480
. . | 12 . . . . g.43941
CAACACATGATGATGTTTGCTG | GCCTTCGTGGTGCAATGGCATTTGCCTTGGCCATTCGA c.1500
Q H M M M F A G | L R G A M A F A L A I R p.500
. . . . . . g.44001
GATACTGCCACTTATGCACGGCAAATGATGTTCAGCACCACGCTTCTGATTGTGTTTTTT c.1560
D T A T Y A R Q M M F S T T L L I V F F p.520
. . . . . | 13 . g.49709
ACCGTGTGGGTATTTGGTGGTGGCACCACTGCAATGCTGTCATGCTTGCATATCAG | GGTT c.1620
T V W V F G G G T T A M L S C L H I R | V p.540
. . | 14. . . . g.53020
GGTGTTGATTCAGACCAAGAACACTTG | GGTGTTCCTGAAAATGAAAGGAGAACTACCAAA c.1680
G V D S D Q E H L | G V P E N E R R T T K p.560
. . . . | 15. . g.59662
GCAGAGAGTGCTTGGCTTTTCCGGATGTGGTACAACTTTGATCATAA | CTATCTGAAGCCT c.1740
A E S A W L F R M W Y N F D H N | Y L K P p.580
. . . . . . g.59722
CTGCTGACCCACAGCGGGCCTCCGCTGACAACAACACTCCCTGCCTGCTGTGGACCCATC c.1800
L L T H S G P P L T T T L P A C C G P I p.600
. . . | 16 . . . g.64052
GCCAGGTGCCTCACCAGCCCCCAGGCTTACGAA | AACCAGGAACAGTTGAAAGATGATGAT c.1860
A R C L T S P Q A Y E | N Q E Q L K D D D p.620
. . . . . . g.64112
TCTGATCTTATTCTCAATGATGGTGACATCAGTTTGACATATGGAGATTCTACTGTGAAC c.1920
S D L I L N D G D I S L T Y G D S T V N p.640
. . . . . . g.64172
ACTGAACCGGCCACATCCAGCGCCCCAAGGAGATTTATGGGAAACAGTTCTGAAGATGCC c.1980
T E P A T S S A P R R F M G N S S E D A p.660
. . . . . . g.64232
TTGGATCGGGAGCTTGCATTTGGGGACCATGAACTGGTCATTCGAGGAACACGCCTGGTT c.2040
L D R E L A F G D H E L V I R G T R L V p.680
. . . . . . g.64292
CTTCCAATGGATGATTCTGAACCCCCGCTAAATTTGTTAGATAATACGAGACATGGTCCA c.2100
L P M D D S E P P L N L L D N T R H G P p.700
g.64298
GCCTAA c.2106
A X p.701
. . . . . . g.64358
gcttactaatactcacttagtgatttgtaaaatttgcacatgtgattgtgaagaaatttg c.*60
. . . . . . g.64418
tactacctaaaagtcccagtgcatgtctctgaatgtgtaagctatataaatgctatttat c.*120
. . . . . . g.64478
atggcatagaaagaatataaatatcctgtacacggcagattgtgaacaaactatattcct c.*180
. . . . . . g.64538
ttaagttttcctggttgcactctgtagactggatctgttttaggaagttactttcacagt c.*240
. . . . . . g.64598
gatgttgtgtgttctgttagttttatgtctcagttaaagtgtaaaaagtgacggattttc c.*300
. . . . . . g.64658
tctttcttaaacttacctgacacttaaccagagtaccagttctcgtgatgtgaattaatt c.*360
. . . . . . g.64718
tttttgtgtgctaggggagggagagtgaggagggagtgttatttccttgggaacctaggg c.*420
. . . . . . g.64778
aggagaggttcctttgttgggaaacttttgttgatagctgctgcctttgtcctgatcgtt c.*480
. . . . . . g.64838
ttctttcccttttctctggtggcctgttgtggtgcaacgagctgatggcatttgatcttg c.*540
. . . . . . g.64898
ccccattcaggttggggagtgaagtgtgaggacccttttcccccgcttgctgtgaaagca c.*600
. . . . . . g.64958
cagattcattgactacagtacactgttgttcagaaaagaaggctgcaaatgacttctgag c.*660
. . . . . . g.65018
actttatgtcttttcttccagaccaagaccgtagaaggagtcacatctagccggcttagc c.*720
. . . . . . g.65078
caaagtacaggtgtatatagttcagggcacttgatttagatttggaggggctggggtggg c.*780
. . . . . . g.65138
cagagagcaagaggcgagtaaagagaatggtggtttcagagatctctcttcccaaatgtg c.*840
. . . . . . g.65198
taaatattctataccagataagtttaaataagaaatttaattgctgcttaatttttgatt c.*900
. . . . . . g.65258
atgtactttatctgtatagcaggctttgtcgtcagaagtttttatatcgatttaaattgc c.*960
. . . . . . g.65318
tgctctttagcagccaaacaggagcaaaatgtaaaatttttgaacttactgtgtctaatc c.*1020
. . . . . . g.65378
atcatttgttagtctgtagttaatgtcaacagttaatttatgaacccacgatcgttccac c.*1080
. . . . . . g.65438
actgcaccaaagtcagtcataagagaaatcgaatattctggagcactgattgcagcaggg c.*1140
. . . . . . g.65498
tggctcctttgtgtgcagcaggtgtagtagtcttcattttcatggtacgttttaatatta c.*1200
. . . . . . g.65558
attacctaagctgccatgcatttttttttttacagttctcaaggaagagcacagaacaat c.*1260
. . . . . . g.65618
ttctcatttcatatttggagtatgaaagtagattctattttgtaatgctgataataccta c.*1320
. . . . . . g.65678
aagatgcattgaatgcttggaagaatgctttttgatgttgattttgacctgttcatgatt c.*1380
. . . . . . g.65738
cagaagaaaaacaaacttttttggattttttttccctcaggtctgagtagcattgcctta c.*1440
. . . . . . g.65798
aatcttatccagttagaacattgatttatttacatgatgttcagattttccagtgaaaaa c.*1500
. . . . . . g.65858
tacccttctgaacaaaacatgtacttactctccgaaaggcatctatctgtgctattgcaa c.*1560
. . . . . . g.65918
acactccttgagattttaggggaattctaatgttgtaccctttcgtggcagctttgactg c.*1620
. . . . . . g.65978
ttggcatagccatttgttatgtagtggtagcgactttcctgctatgcaggaatccctccc c.*1680
. . . . . . g.66038
atgacgtgtatgttttacatgatgtgtgcctcttcacgcagtaaatagtttcttgttaat c.*1740
. . . . . . g.66098
gtatgtttgaggagtttgaacgtcagtgtcacttacccacaaagttattcaagttgtaaa c.*1800
. . . . . . g.66158
aggttatacaataatttaacaactaccttttttattctgtcgggttactgacctcacttt c.*1860
. . . . . . g.66218
atgtaaatacttcgcatgacaaattcagtaactcgtctatttcagcatgcataagacttt c.*1920
. . . . . . g.66278
tcactagggaaactgataaagcttgagtcaactaaatctgccttcatactttatcaaggg c.*1980
. . . . . . g.66338
gaaccaagcctgctgtgcttacatcagcatctggaagactttcctctcctctaatctgtg c.*2040
. . . . . . g.66398
tacacatctccaagcaaggaagaaaaaacaaactctgctcagacgcctatgaaacacctg c.*2100
. . . . . . g.66458
aatgaactttgatgaagtacagtctgagttaccatcatgcacaagtagaactgctcttgg c.*2160
. . . . . . g.66518
acttgttttcctgttgtttgtggaacctacgcgtttgaatggcttgaacgttgcatcttt c.*2220
. . . . . . g.66578
taaagttattttttaaggtttcttggcatttatcctagttgtccgtgtttggcaatgtgc c.*2280
. . . . . . g.66638
tgttaaagtaatagacttttaatctttatgtattttttgttttctctggagtacttggac c.*2340
. . . . . . g.66698
agatgttatagtggtttcttttaggaaaatctgtcattaaaaaagttatagccttgcaaa c.*2400
. . . . . . g.66758
taaccactcacagtatttgagtcacagtttattttagtgagacgtaaagagtgctgactt c.*2460
. . . . . . g.66818
catttatttttctacctatatacctagtggaaaaggggaagactaatgttttcaaataaa c.*2520
. . g.66843
caaacagaaacctaacagaacttaa c.*2545
(downstream sequence)
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