(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)
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