(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the AICDA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering AICDA transcript NM_020661.2.(upstream sequence) . . . g.39 CAAAAGGATGCGCCGAAGCTGTCTGGAGAGACGAACTGA c.39 Q K D A P K L S G E T N X p.12 . . . . . . g.99 attttcatgcagcccttcccaggctttgaaagttctttcgtggttttctacaaaagtatt c.*60 . | 02. . . . . g.451 ccagcagtaaaaataat | ctttgaaggtcatgatggctatttgcaccccggcgcggtgcag c.*120 . . . . . . g.511 ccgccgcagcccctcgggctcagccttgcggtcctcacagaagtagaggcgcgcggtgaa c.*180 . . . . . . g.571 gatcctcagactgaggttggggttccctcgcagaaagtcggccacatgtcgggcacagtc c.*240 . . . . . . g.631 gtagcaggggctccaggaggtgaaccaggtgacgcggtagcagcggccagggtctaggtc c.*300 . . . . | 03 . g.2070 ccagtccgagatgtagcggaggaagagcaattccacgtggcagccgtt | cttattgcgaag c.*360 . . . . . . g.2130 ataaccaaagtccagtgaaaaggatgtagcactgtcacgcctcttcactacgtagcacag c.*420 . . . . . . g.2190 gtaggtctcacgccgacccttagcccagcggacatttttgaattggtaaagaaacttcct c.*480 . | 04 . . . . . g.7997 ccggttcatcaagagg | ctgtccatagtggtgtccagagtgtcttcttgcctccctgcaag c.*540 . . . . | 05 . . g.8057 tctcaggccagaaaaatctcacttcaattaatgatggttctct | a c.*584 (downstream sequence)Legend:
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