(used for variant description)
(last modified December 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001029.3 in the RPS26 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023201.1, covering RPS26 transcript NM_001029.3.
(upstream sequence)
. . g.5025
ggagacacataacctcgattttctt c.-241
. . . . . . g.5085
ccgccatccggctaaatagtcccatgtgcactttgttccatggataaataaacactagga c.-181
. . . . . . g.5145
acgcatttccaccctagatttcagcagaaatgctgaatgtaaaggaatatttgagtaaag c.-121
. . . . . . g.5205
tgagttgccgttcttgaagcccgtctcctaaggattctcccggtgtccgcgtagggatct c.-61
. . . . . . g.5265
catgctatataggagggccctgccaggcaccgtctcctctctccggtccgtgcctccaag c.-1
| 02 . . . . . . g.5580
ATG | ACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCT c.60
M | T K K R R N N G R A K K G R G H V Q P p.20
. . . . . . g.5640
ATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTC c.120
I R C T N C A R C V P K D K A I K K F V p.40
. . . . . . g.5700
ATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGAT c.180
I R N I V E A A A V R D I S E A S V F D p.60
| 03 . . . . . . g.6520
G | CCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCAC c.240
A | Y V L P K L Y V K L H Y C V S C A I H p.80
. . . . . . g.6580
AGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGA c.300
S K V V R N R S R E A R K D R T P P P R p.100
. | 04 . . . g.7265
TTTAGACCTGCG | GGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAA c.348
F R P A | G A A P R P P P K P M X p.115
. . . . . . g.7325
ggagctgagttcttaaagactgaagacaggctattctctggagaaaaataaaatggaaat c.*60
g.7334
tgtacttaa c.*69
(downstream sequence)
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