(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the SLC37A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SLC37A4 transcript NM_001164277.1.
(upstream sequence)
. g.12
CATTGGCCATGA c.12
H W P X p.3
. . . . . . g.72
gtcccacaatggcgtgggaggtgccacacaagttgggaggggcactctcgttggctatga c.*60
. . . . . . g.132
ctccaaacagggcaatggggccatacgaggagaaaccaaatacagctcccaataccagga c.*120
| 02. . . . . . g.829
tccagag | cttgggggagtcactggtcactgttacccggaagaggtacatggacactgtca c.*180
. . . . . . g.889
tgccagccatcatgaacagcaacaggccatggcgagggttcccgtagttggacagtcccg c.*240
| 03 . . . . . . g.1471
c | ctttgccatggcccggtctgacaggtagccagctgcgatgctgcctacaaggcccccaa c.*300
. . | 04. . . . g.1779
cttccagggcactcatgtaggagctac | ctacaagggctgactgtcctttctcctggataa c.*360
. . . . . . g.1839
ggaagaactggccccagtcagtacagcaggtctttactccaaacaccacaaggtaaccag c.*420
. . . . . . g.1899
tggagagcacccacaggtaaggggacagcagcagctcctgcagggtgctctcctccttca c.*480
| 05 . . . . . . g.2491
aggagc | ccttcttgccctcagagggcatggggtccaggttgcggagtccaacatcagcag c.*540
. . . . . . g.2551
gttcattgtggatgagcaggagacagaggaaggagacaaccacaccacagtgccccagat c.*600
. . . . . . g.2611
agggccagcgtgctgcgccagctgtagctctgggcaaggatggttgccaggatagggccc c.*660
. . . . . . g.2671
agccctccagccaggttcatgctggttgacaggatggcccaccaagtgccaaactgagat c.*720
. | 06 . . . . . g.3052
ggctcaaacca | cttccgcaggaccttcccacatgggggccagcccagcccctgggccagg c.*780
. . . . . . g.3112
ccattaaggaaccagagggcagcaaagacaggtactgtggagctccaggcaaagaatatg c.*840
. . . . . . g.3172
ttgaccaggccaaccaggagcagcccagaagagaagagccagcgagcactcatctggtca c.*900
. . . . . . g.3232
gacagcaccccactgacaaacttgctgatagcataagctgccgactggctgctggtgatg c.*960
| 07 . . . . . . g.4087
aacc | ccaaatcatccttgtccaaagggatctcttccaccaatgatggcatgacaaaggag c.*1020
. . . . . . g.4147
aaggtcttgcgattgaagtaatacaggctgtagcccccaaacatggctgagaagatcaca c.*1080
. . . . . . g.4207
gtgcgataatagccatagccctgggctgccatggtagaaaagagcaggccctaccagcca c.*1140
. . . . . . g.4267
agacgcacagcctctgaccacagttcctgcttgccgctctcacagttcccagatctgctg c.*1200
. . . . . . g.4327
agttgggttttttctgctccctcctccacccagcctcccaggctccctttatagccgcct c.*1260
. . . . | 08. . g.5054
tctggacaatcattaagcctggggaggctccaaggggacccagtgtc | ctgtgggacgttg c.*1320
. . . . . . g.5114
gcaggggccgcaagcagagggactgggcagctcgtgggcgggaaggtgccccggcgggct c.*1380
. . . . . . g.5174
tcgggctgcagggcacaaccgtcccgcccagggccccggcaacatgccccggcttttccg c.*1440
. . . . . . g.5234
ctcaattgggaaagcaactggagcagaaggcgtaggcgcacgcggagcgggcgaccgcac c.*1500
. . . . . . g.5294
gtattctcccggaggccccgcgcttctggcacccagaggctcagcctggtaggggagggc c.*1560
. . . . . . g.5354
caggcggcgggcgggagaggaggagaggcggcgggcggcgaagaggcggcgggctcgtgg c.*1620
. . . . . . g.5414
cacctgcccagccccgtgggtcctcacgctacccaggacacgctactgtgcggctgggaa c.*1680
. . . . . . g.5474
ccacgggggccgggggtgcaggagctggagaggtgcggagaccacaggactggcgcgata c.*1740
. . . . . . g.5534
gaaaggggtctcgtgctggtggtcagggacagcgcctcggtggccccaagacccatgaat c.*1800
. | 09 . . . . . g.5707
tgtctctggaa | ctgaacagaggcgggagcccgaataggacggggcggggctagcgaaggc c.*1860
| 10 . . . . . g.5767
tgcgcaagc | a c.*1870
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center