(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:
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