(used for variant description)
(last modified October 13, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_020427.2 in the SLURP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering SLURP1 transcript NM_020427.2.
(upstream sequence)
. . g.5026
ctctcatcacttctgagcacggagca c.-1
. . . . . | 02 g.5491
ATGGCCTCTCGCTGGGCTGTGCAGCTGCTGCTCGTGGCAGCCTGGAGCATGGGCTGTG | GT c.60
M A S R W A V Q L L L V A A W S M G C G | p.20
. . . . . . g.5551
GAGGCCCTCAAGTGCTACACCTGCAAGGAGCCCATGACCAGTGCTTCCTGCAGGACCATT c.120
E A L K C Y T C K E P M T S A S C R T I p.40
. . . . . | 03 g.6137
ACCCGCTGCAAGCCAGAGGACACAGCCTGCATGACCACGCTGGTGACGGTGGAGGCAG | AG c.180
T R C K P E D T A C M T T L V T V E A E | p.60
. . . . . . g.6197
TACCCCTTCAACCAGAGCCCCGTGGTGACCCGCTCCTGCTCCAGCTCCTGTGTGGCCACC c.240
Y P F N Q S P V V T R S C S S S C V A T p.80
. . . . . . g.6257
GACCCCGACAGCATCGGGGCCGCCCACCTGATCTTCTGCTGCTTCCGAGACCTCTGCAAC c.300
D P D S I G A A H L I F C C F R D L C N p.100
. g.6269
TCGGAACTCTGA c.312
S E L X p.103
. . . . . . g.6329
acccagggcggcagggcggaaggtgctcctcaggcacctcctctctgacggggcctggct c.*60
. . . . . . g.6389
ccacctgtgatcacctccccctgcttcctgctgctgtggcacagctcactcatggggtct c.*120
. . . . . . g.6449
gaggggagagaagcacaccaggggcgccctctgccttccataccccacgcttataaaaca c.*180
. g.6468
taactaagccaagagtgga c.*199
(downstream sequence)
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