(used for variant description)
(last modified March 20, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_014585.5 in the SLC40A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SLC40A1 transcript NM_014585.5.
(upstream sequence)
. . . . . g.5051
ataagagctgggcccggcccacggcggcggcggcggcggcggagagagctg c.-301
. . . . . . g.5111
gctcagggcgtccgctaggctcggacgacctgctgagcctcccaaaccgcttccataagg c.-241
. . . . . . g.5171
ctttgcctttccaacttcagctacagtgttagctaagtttggaaagaaggaaaaaagaaa c.-181
. . . . . . g.5231
atccctgggccccttttcttttgttctttgccaaagtcgtcgttgtagtctttttgccca c.-121
. . . . . . g.5291
aggctgttgtgtttttagaggtgctatctccagttccttgcactcctgttaacaagcacc c.-61
. . . . . . g.5351
tcagcgagagcagcagcagcgatagcagccgcagaagagccagcggggtcgcctagtgtc c.-1
. . . . | 02 . . g.5948
ATGACCAGGGCGGGAGATCACAACCGCCAGAGAGGATGCTGTG | GATCCTTGGCCGACTAC c.60
M T R A G D H N R Q R G C C G | S L A D Y p.20
. . . . . | 03 . g.10500
CTGACCTCTGCAAAATTCCTTCTCTACCTTGGTCATTCTCTCTCTACTTGG | GGAGATCGG c.120
L T S A K F L L Y L G H S L S T W | G D R p.40
. . . . . . g.10560
ATGTGGCACTTTGCGGTGTCTGTGTTTCTGGTAGAGCTCTATGGAAACAGCCTCCTTTTG c.180
M W H F A V S V F L V E L Y G N S L L L p.60
. . . . . . g.10620
ACAGCAGTCTACGGGCTGGTGGTGGCAGGGTCTGTTCTGGTCCTGGGAGCCATCATCGGT c.240
T A V Y G L V V A G S V L V L G A I I G p.80
. . . | 04 . . . g.12879
GACTGGGTGGACAAGAATGCTAGACTTAAAG | TGGCCCAGACCTCGCTGGTGGTACAGAAT c.300
D W V D K N A R L K V | A Q T S L V V Q N p.100
. . . . . . g.12939
GTTTCAGTCATCCTGTGTGGAATCATCCTGATGATGGTTTTCTTACATAAACATGAGCTT c.360
V S V I L C G I I L M M V F L H K H E L p.120
. . | 05. . . . g.14003
CTGACCATGTACCATGGATGGGTTCTC | ACTTCCTGCTATATCCTGATCATCACTATTGCA c.420
L T M Y H G W V L | T S C Y I L I I T I A p.140
. . . . . . g.14063
AATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTGGATTGTT c.480
N I A N L A S T A T A I T I Q R D W I V p.160
. . . | 06 . . . g.20238
GTTGTTGCAGGAGAAGACAGAAGCAAACTAGCAA | ATATGAATGCCACAATACGAAGGATT c.540
V V A G E D R S K L A N | M N A T I R R I p.180
. . . . . . g.20298
GACCAGTTAACCAACATCTTAGCCCCCATGGCTGTTGGCCAGATTATGACATTTGGCTCC c.600
D Q L T N I L A P M A V G Q I M T F G S p.200
. . . . . . g.20358
CCAGTCATCGGCTGTGGCTTTATTTCGGGATGGAACTTGGTATCCATGTGCGTGGAGTAC c.660
P V I G C G F I S G W N L V S M C V E Y p.220
. . . . . . g.20418
GTTCTGCTCTGGAAGGTTTACCAGAAAACCCCAGCTCTAGCTGTGAAAGCTGGTCTTAAA c.720
V L L W K V Y Q K T P A L A V K A G L K p.240
. . . . | 07 . . g.21606
GAAGAGGAAACTGAATTGAAACAGCTGAATTTACACAAAG | ATACTGAGCCAAAACCCCTG c.780
E E E T E L K Q L N L H K D | T E P K P L p.260
. . . . . . g.21666
GAGGGAACTCATCTAATGGGTGTGAAAGACTCTAACATCCATGAGCTTGAACATGAGCAA c.840
E G T H L M G V K D S N I H E L E H E Q p.280
. . . . . . g.21726
GAGCCTACTTGTGCCTCCCAGATGGCTGAGCCCTTCCGTACCTTCCGAGATGGATGGGTC c.900
E P T C A S Q M A E P F R T F R D G W V p.300
. . . . . . g.21786
TCCTACTACAACCAGCCTGTGTTTCTGGCTGGCATGGGTCTTGCTTTCCTTTATATGACT c.960
S Y Y N Q P V F L A G M G L A F L Y M T p.320
. . . . . . g.21846
GTCCTGGGCTTTGACTGCATCACCACAGGGTACGCCTACACTCAGGGACTGAGTGGTTCC c.1020
V L G F D C I T T G Y A Y T Q G L S G S p.340
. . . . . . g.21906
ATCCTCAGTATTTTGATGGGAGCATCAGCTATAACTGGAATAATGGGAACTGTAGCTTTT c.1080
I L S I L M G A S A I T G I M G T V A F p.360
. . . . . . g.21966
ACTTGGCTACGTCGAAAATGTGGTTTGGTTCGGACAGGTCTGATCTCAGGATTGGCACAG c.1140
T W L R R K C G L V R T G L I S G L A Q p.380
. . . . . . g.22026
CTTTCCTGTTTGATCTTGTGTGTGATCTCTGTATTCATGCCTGGAAGCCCCCTGGACTTG c.1200
L S C L I L C V I S V F M P G S P L D L p.400
. . . . . . g.22086
TCCGTTTCTCCTTTTGAAGATATCCGATCAAGGTTCATTCAAGGAGAGTCAATTACACCT c.1260
S V S P F E D I R S R F I Q G E S I T P p.420
. . . . . . g.22146
ACCAAGATACCTGAAATTACAACTGAAATATACATGTCTAATGGGTCTAATTCTGCTAAT c.1320
T K I P E I T T E I Y M S N G S N S A N p.440
. . . . . . g.22206
ATTGTCCCGGAGACAAGTCCTGAATCTGTGCCCATAATCTCTGTCAGTCTGCTGTTTGCA c.1380
I V P E T S P E S V P I I S V S L L F A p.460
. . | 08 . . . . g.23658
GGCGTCATTGCTGCTAGAATCG | GTCTTTGGTCCTTTGATTTAACTGTGACACAGTTGCTG c.1440
G V I A A R I G | L W S F D L T V T Q L L p.480
. . . . . . g.23718
CAAGAAAATGTAATTGAATCTGAAAGAGGCATTATAAATGGTGTACAGAACTCCATGAAC c.1500
Q E N V I E S E R G I I N G V Q N S M N p.500
. . . . . . g.23778
TATCTTCTTGATCTTCTGCATTTCATCATGGTCATCCTGGCTCCAAATCCTGAAGCTTTT c.1560
Y L L D L L H F I M V I L A P N P E A F p.520
. . . . . . g.23838
GGCTTGCTCGTATTGATTTCAGTCTCCTTTGTGGCAATGGGCCACATTATGTATTTCCGA c.1620
G L L V L I S V S F V A M G H I M Y F R p.540
. . . . . . g.23898
TTTGCCCAAAATACTCTGGGAAACAAGCTCTTTGCTTGCGGTCCTGATGCAAAAGAAGTT c.1680
F A Q N T L G N K L F A C G P D A K E V p.560
. . . g.23934
AGGAAGGAAAATCAAGCAAATACATCTGTTGTTTGA c.1716
R K E N Q A N T S V V X p.571
. . . . . . g.23994
gacagtttaactgttgctatcctgttactagattatatagagcacatgtgcttattttgt c.*60
. . . . . . g.24054
actgcagaattccaataaatggctgggtgttttgctctgtttttaccacagctgtgcctt c.*120
. . . . . . g.24114
gagaactaaaagctgtttaggaaacctaagtcagcagaaattaactgattaatttccctt c.*180
. . . . . . g.24174
atgttgaggcatggaaaaaaaattggaaaagaaaaactcagtttaaatacggagactata c.*240
. . . . . . g.24234
atgataacactgaattcccctatttctcatgagtagatacaatcttacgtaaaagagtgg c.*300
. . . . . . g.24294
ttagtcacgtgaattcagttatcatttgacagattcttatctgtactagaattcagatat c.*360
. . . . . . g.24354
gtcagttttctgcaaaactcactcttgttcaagactagctaatttatttttttgcatctt c.*420
. . . . . . g.24414
agttatttttaaaaacaaattcttcaagtatgaagactaaattttgataactaatattat c.*480
. . . . . . g.24474
ccttattgatcctattgatcttaaggtatttacatgtatgtggaaaaacaaaacacttaa c.*540
. . . . . . g.24534
ctagaattctctaataaggtttatggtttagcttaaagagcacctttgtatttttattat c.*600
. . . . . . g.24594
cagatggggcaacatattgtatgaagcatatgtagcacttcacagcatggttatcatgta c.*660
. . . . . . g.24654
agctgcaggtagaagcaaagctgtaaagtagatttatcacacaatgactgcatacagact c.*720
. . . . . . g.24714
tcaaatatgtcaatagtttggtcatagaacctagaagccaaaagccacacagaagggcaa c.*780
. . . . . . g.24774
gaatcccaatttaactcatgttatcatcattagtgatctgtgttgtagaacatgagggtg c.*840
. . . . . . g.24834
taagccttcagcctggcaagttacatgtagaaagcccacacttgtgaaggttttgtttta c.*900
. . . . . . g.24894
caaatcacttgatttaacacactcaggtagaatatttttatttttactgttttataccca c.*960
. . . . . . g.24954
gaagttatttctacattgttctacagcaagaatattcataaaagtatccctttcaaatgc c.*1020
. . . . . . g.25014
ctttgagaagaatagaagaaaaaaagtttgtatatattttaaaaaattgttttaaaagtc c.*1080
. . . . . . g.25074
agtttgcaacatgtctgtaccaagatggtactttgccttaaccgtttatatgcactttca c.*1140
. . . . . . g.25134
tggagactgcaatacgttgctatgagcactttctttatccttggagtttaatcctttgct c.*1200
. . . . . . g.25194
tcatctttctacagtatgacataatgatttgctatgttgtaaaatctttgtaaaaaattt c.*1260
. . g.25222
ctatataaaaatattttgaaaatcttaa c.*1288
(downstream sequence)
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