Genomic variant #0000551223

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.60186745C>T
Reference Copied from the Exome Variant Server
DB-ID ERCC8_000016
Frequency 12/13006
Freq. EA 11/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ERCC8 NM_000082.3 ?/? c.1012G>A r.(?) p.(Asp338Asn)