(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018713.2 in the SLC30A10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032153.1, covering SLC30A10 transcript NM_018713.2.
(upstream sequence)
. . . g.5031
actgcccccgccactcctttagactctggac c.-181
. . . . . . g.5091
gtgcggggactggtggcgctcggcctcgcgttataaaaagcggtggggcagggccggcga c.-121
. . . . . . g.5151
gacaatctgggaggcgggtaccgggcctcacggatccgcgccgcgccccccacctgtggc c.-61
. . . . . . g.5211
tgcgcgcggggtgggctgcgctcccctgggcggcgccgggcgcccggggctggtggcgag c.-1
. . . . . . g.5271
ATGGGCCGCTACTCTGGCAAGACGTGCCGGCTGCTCTTCATGCTGGTGCTCACCGTCGCC c.60
M G R Y S G K T C R L L F M L V L T V A p.20
. . . . . . g.5331
TTCTTCGTGGCGGAGCTGGTCTCCGGCTACCTGGGCAACTCCATCGCGCTGCTCTCCGAC c.120
F F V A E L V S G Y L G N S I A L L S D p.40
. . . . . . g.5391
TCCTTCAACATGCTCTCCGACCTGATCTCGCTGTGCGTGGGCCTGAGCGCCGGCTACATC c.180
S F N M L S D L I S L C V G L S A G Y I p.60
. . . . . . g.5451
GCCCGGCGCCCCACCCGGGGCTTCAGCGCCACCTACGGCTACGCCCGCGCCGAGGTGGTG c.240
A R R P T R G F S A T Y G Y A R A E V V p.80
. . . . . . g.5511
GGCGCGCTGAGCAACGCGGTCTTCCTCACCGCGCTCTGCTTCACCATCTTCGTGGAGGCC c.300
G A L S N A V F L T A L C F T I F V E A p.100
. . . . . . g.5571
GTGCTGCGCCTGGCCCGGCCCGAGCGCATCGATGACCCCGAGCTGGTGCTCATCGTCGGC c.360
V L R L A R P E R I D D P E L V L I V G p.120
. . . . . . g.5631
GTCCTGGGGCTGTTGGTCAACGTGGTGGGGCTGCTCATCTTCCAGGACTGCGCCGCCTGG c.420
V L G L L V N V V G L L I F Q D C A A W p.140
. . . . . . g.5691
TTCGCGTGCTGCCTCCGGGGACGCAGTCGCCGCCTGCAGCAGCGGCAGCAGCTGGCGGAG c.480
F A C C L R G R S R R L Q Q R Q Q L A E p.160
. . . . . . g.5751
GGCTGTGTCCCCGGCGCTTTCGGGGGGCCTCAGGGCGCGGAGGACCCGCGGCGCGCGGCG c.540
G C V P G A F G G P Q G A E D P R R A A p.180
. . . . . . g.5811
GACCCGACAGCCCCAGGCTCGGACTCGGCCGTAACCCTCCGGGGGACCTCGGTGGAAAGG c.600
D P T A P G S D S A V T L R G T S V E R p.200
. . . . | 02 . . g.6566
AAGCGGGAGAAGGGGGCGACCGTGTTCGCAAACGTAGCAG | GTGATTCCTTCAACACCCAG c.660
K R E K G A T V F A N V A G | D S F N T Q p.220
. . . . . | 03 g.15159
AATGAGCCAGAAGACATGATGAAAAAAGAGAAAAAGTCTGAAGCTCTGAATATCAGAG | GT c.720
N E P E D M M K K E K K S E A L N I R G | p.240
. . . . . . g.15219
GTACTTTTGCATGTGATGGGAGATGCCCTGGGGTCCGTGGTTGTGGTCATCACGGCCATC c.780
V L L H V M G D A L G S V V V V I T A I p.260
. . . . . . g.15279
ATATTCTATGTGCTTCCCCTGAAGAGTGAGGACCCGTGTAACTGGCAGTGTTACATTGAC c.840
I F Y V L P L K S E D P C N W Q C Y I D p.280
. . . . . . g.15339
CCCAGCCTGACTGTCCTCATGGTCATCATCATTTTGTCATCTGCCTTCCCGCTTATCAAG c.900
P S L T V L M V I I I L S S A F P L I K p.300
. . . . . | 04 g.17705
GAGACCGCTGCCATTCTGCTACAGATGGTCCCAAAAGGAGTCAACATGGAAGAGCTGA | TG c.960
E T A A I L L Q M V P K G V N M E E L M | p.320
. . . . . . g.17765
AGTAAACTCTCTGCTGTGCCTGGAATTAGCAGTGTACATGAAGTGCACATCTGGGAACTT c.1020
S K L S A V P G I S S V H E V H I W E L p.340
. . . . . . g.17825
GTAAGTGGAAAGATTATTGCCACCCTGCACATCAAGTATCCTAAGGACAGGGGATATCAA c.1080
V S G K I I A T L H I K Y P K D R G Y Q p.360
. . . . . . g.17885
GATGCCAGCACAAAAATTCGAGAAATCTTCCACCATGCGGGAATCCACAATGTGACCATC c.1140
D A S T K I R E I F H H A G I H N V T I p.380
. . . . . . g.17945
CAGTTTGAAAATGTGGACTTGAAGGAACCCCTGGAGCAGAAGGACTTACTGTTGCTCTGC c.1200
Q F E N V D L K E P L E Q K D L L L L C p.400
. . . . . . g.18005
AACTCACCCTGCATCTCCAAGGGCTGTGCTAAGCAGCTGTGTTGTCCCCCCGGGGCACTG c.1260
N S P C I S K G C A K Q L C C P P G A L p.420
. . . . . . g.18065
CCTCTGGCTCACGTCAATGGCTGTGCTGAGCACAATGGTGGGCCCTCTCTAGACACATAC c.1320
P L A H V N G C A E H N G G P S L D T Y p.440
. . . . . . g.18125
GGAAGTGATGGCCTCAGTAGAAGAGACGCAAGAGAAGTGGCTATTGAAGTGTCTTTGGAT c.1380
G S D G L S R R D A R E V A I E V S L D p.460
. . . . . . g.18185
AGCTGTCTGAGTGACCACGGACAAAGTCTTAACAAAACTCAGGAGGACCAATGTTATGTC c.1440
S C L S D H G Q S L N K T Q E D Q C Y V p.480
. g.18203
AACAGAACGCATTTTTAA c.1458
N R T H F X p.485
. . . . . . g.18263
tctggtactcacataatcagaccatatagacgaggcactttggaaccacaagcttggctc c.*60
. . . . . . g.18323
acaaaaagagctttctgggttgtaggcccagactagacttgcagcatgcatgctctgtgt c.*120
. . . . . . g.18383
tcactaggggttggctgtttgggattttagttaaacgtgtctgtgaatttttatgtaact c.*180
. . . . . . g.18443
aactcctttccattcccctgggtgtctcatgctgctctttgactgtttcagcttgaacat c.*240
. . . . . . g.18503
gcattttctaaagcaaactgcactagtgtatatatcagggacattaaagtctgggactgg c.*300
. . . . . . g.18563
ggctcaatagctgcggatacagtgttcaaagaagttcttgtttctaaactgattagaact c.*360
. . . . . . g.18623
tctagctaatgctcaggtgagatcatagcttaaatacattgaaaaaactaaagtaccaca c.*420
. . . . . . g.18683
atagctgtatttttcccaatccccttaacgatcataaaagaggcaagttaagtatttctg c.*480
. . . . . . g.18743
gcactgaagaaatatcttttttctttgattcatttttgaataaatataaaatgaataact c.*540
. . . . . . g.18803
attaaggtagaaaatattctcagaacattctagaggaggtaaaggttagtaggagggcgt c.*600
. . . . . . g.18863
tggccatctctacattttgtgaggtgagagaaaactaatgtttactttctgctgtgaact c.*660
. . . . . . g.18923
gaactgcagctatagaatgtttcaaatgcttaaatatataatacatttttttccatggaa c.*720
. . . . . . g.18983
gtgagggaatatttcagtttcctgaagtatgacacaaatactcatatactgtcttttaga c.*780
. . . . . . g.19043
gtcagtatagttggagctgttttcatttagtgctttgataatgatttacttatttttcca c.*840
. . . . . . g.19103
aatttcgtttgaattttctttcatatgattgcattgatctatgcagcatttaccagaaaa c.*900
. . . . . . g.19163
gagtattcctgggatagcagaatgcataacactgagtgttaattcttgtgaaataaataa c.*960
. . . . . . g.19223
gctagactgccttctctttaattagacatattttaaagtatttattatagttgtcaacta c.*1020
. . . . . . g.19283
gtaactcaatgaaaaagttgatgcccaagggagaaatgagaattagcttaattgctgcct c.*1080
. . . . . . g.19343
ttaatgtgtttttgaggaacttaaaattttctttcatgtcgctgatccatattaccaagt c.*1140
. . . . g.19388
tcaaataaaatttttataatcggattcagacccataaccaaacta c.*1185
(downstream sequence)
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