(used for variant description)
(last modified October 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018648.3 in the NOP10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011562.1, covering NOP10 transcript NM_018648.3.
(upstream sequence)
. . g.5028
aggaaattgacgaacacgtgacgcggtc c.-61
. . . . . . g.5088
gggcggaccactgcagactgagcggtggaccgaattgggaccgctggcttataagcgatc c.-1
. . . . . | 02 . g.6059
ATGTTTCTCCAGTATTACCTCAACGAGCAGGGAGATCGAGTCTATACGCTGAAG | AAATTT c.60
M F L Q Y Y L N E Q G D R V Y T L K | K F p.20
. . . . . . g.6119
GACCCGATGGGACAACAGACCTGCTCAGCCCATCCTGCTCGGTTCTCCCCAGATGACAAA c.120
D P M G Q Q T C S A H P A R F S P D D K p.40
. . . . . . g.6179
TACTCTCGACACCGAATCACCATCAAGAAACGCTTCAAGGTGCTCATGACCCAGCAACCG c.180
Y S R H R I T I K K R F K V L M T Q Q P p.60
. g.6194
CGCCCTGTCCTCTGA c.195
R P V L X p.64
. . . . . . g.6254
gggtcccttaaactgatgtcttttctgccacctgttacccctcggagactccgtaaccaa c.*60
. . . . . . g.6314
actcttcggactgtgagccctgatgcctttttgccagccatactctttggcatccagtct c.*120
. . . . . . g.6374
ctcgtggcgattgattatgcttgtgtgaggcaatcatggtggcatcacccataaagggaa c.*180
. . . . . . g.6434
cacatttgacttttttttctcatattttaaattactacaagattattaaagataaaatga c.*240
. g.6446
tttgaaaaactc c.*252
(downstream sequence)
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