Genomic variant #0000551218

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.60183349T>C
Reference Copied from the Exome Variant Server
DB-ID ERCC8_000027
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ERCC8 NM_000082.3 ?/? c.1042-2A>G r.spl? p.?