Genomic variant #0000551225

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.60186817T>G
Reference Copied from the Exome Variant Server
DB-ID ERCC8_000020
Frequency 1/13004
Freq. EA 1/8598
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.940A>C r.(?) p.(Ser314Arg)