(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the RNF168 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering RNF168 transcript NM_152617.3.
(upstream sequence)
. . . . g.48
CTTAGATACGGAGTCTTTCCTGACTTCTTGTACAGCTTCAGAGTGTGA c.48
L R Y G V F P D F L Y S F R V X p.15
. . . | 02 . . . g.8565
ggctgacccaaactgagatttcggtgtcaaatac | ttctgaatatctccagtgtttctttg c.*60
. . . . . . g.8625
tttgttcttacttttcttttcagacttgggtgtaactggatcagattttctggaattcaa c.*120
. . . | 03 . . . g.12192
gggagaagccgagatacttccctcacagaaattgtt | aatatcaatgcttagctttcttgc c.*180
. . . . . . g.12252
cagttcctcatcacttttcagttgttcttccatcgctcttcgccttttttctgcctgtct c.*240
. . . . . . g.12312
tttttcctcttcttcctcctctgccaacaacctctgtatgtattcttcactggctttgtt c.*300
. . . | 04 . . . g.13400
ttcttcttcctcgctggcccgtcgctctgccgccac | cttgcttatttcctcttcatattc c.*360
. . . . . | 05 . g.27649
tcttctcagttccccaggtttactgagcagacgaactggctgatagtcatcag | ccacttc c.*420
. . . . . . g.27709
ctctgattcttggccagacgctctaagcttgcactccctgggatagtgtttttgaattat c.*480
. . . . . . g.27769
cgtccacagttccacgttgacgagagaatttcttcgggtatggtaccgagtccacgacga c.*540
. . . . . . g.27829
tacccggcggcgacagaagggacagcataaactcgccttttcgacggtcgactggaagca c.*600
. . . . . . g.27889
cggtttacacagcgtgtggttacacgggagggtgacgggctccacgaggatttccatgca c.*660
. . . . . . g.27949
gatcccgcactggcactcggacagcgaggggatggcgtctttgggtagagccatttcaat c.*720
. . . . . . g.28009
atgttagtaaagccgactaaacaacgacacctgcacgaaaaagaatcctattttcggcca c.*780
. . . . . . g.28069
accacagagagagcaaaagcagttttgtgtttcagtattatgcccagaagcgtatcagaa c.*840
. . . . . . g.28129
ttcggagaacaggagcatccaacacgtcttgaagcaaaaaggcgctctcagggtcaggca c.*900
. . . . . . g.28189
aacaggaataccccggagggcggcgtctttgtccattttcaaggcaaacgtcccgccagc c.*960
. . . . . . g.28249
aaataaatgcaggttttcgtcggaggagcctggctgctccgcggcatgaacaccgcggct c.*1020
. . . . . . g.28309
gcggctcccggggcagcgaggggaacgcgccaagtcctctcctcccctcacccggaaagg c.*1080
. . . . . . g.28369
atgctccgctcagctcggggcagccgggccccgggacgcggctccgggaggaagcccggg c.*1140
. . . . . . g.28429
ctccggctgcagcataacttccgctttaccgctgctgcgggggagacgcgcgactcccgt c.*1200
. . . . . . g.28489
gttcacctttcgggcgcctggcgcagtttcccagagctccgcgcccccgtccctcctacg c.*1260
. . . . | 06 . g.28549
cagccagaaaccctattcgttgcggcagcgcagcagccaccggacaagc | t c.*1310
(downstream sequence)
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