(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the NOP10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering NOP10 transcript NM_018648.3.
(upstream sequence)
. . . . . . g.60
CTTCAGCGTATAGACTCGATCTCCCTGCTCGTTGAGGTAATACTGGAGAAACATGATCGC c.60
L Q R I D S I S L L V E V I L E K H D R p.20
g.66
TTATAA c.66
L X p.21
. . . . . . g.126
gccagcggtcccaattcggtccaccgctcagtctgcagtggtccgcccgaccgcgtcacg c.*60
. | 02 . . . . . g.186
tgttcgtcaatttcct | t c.*77
(downstream sequence)
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