(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the IL10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering IL10 transcript NM_000572.2.(upstream sequence) . . . . . . g.60 CTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAA c.60 L I K G I L H L L H G L A L V F T G K K p.20 | 02 . g.1132 TCGATG | ACAGCGCCGTAG c.78 S M | T A P X p.25 . . . . . . g.1192 cctcagcctgagggtcttcaggttctcccccagggagttcacatgcgccttgatgtctgg c.*60 . . . . . . g.1252 gtcttggttctcagcttggggcatcacctcctccaggtaaaactggatcatctcagacaa c.*120 . . | 03 . . . . g.1608 ggcttggcaacccaggtaacc | cttaaagtcctccagcaaggactcctttaacaacaagtt c.*180 . . | 04 . . . . g.2523 gtccagctgatccttcatttg | aaagaaagtcttcactctgctgaaggcatctcggagatc c.*240 . . . . . . g.2583 tcgaagcatgttaggcaggttgcctgggaagtgggtgcagctgttctcagactgggtgcc c.*300 . . . . . . g.2643 ctggcctgggctggccctcaccccagtcaggaggaccaggcaacagagcagtgctgagct c.*360 . . . . . . g.2703 gtgcatgccttcttttgcaagtctgtcttgtggtttggttttgcaagagcaagcccctga c.*420 | 05 . . . . . . g.2763 tgtgt | g c.*426 (downstream sequence)Legend:
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