Genomic variant #0000306753

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.202139548T>C
Reference Copied from the Exome Variant Server
DB-ID CASP8_000051
Frequency 3/4566
Freq. EA 0/3182
Freq. AA 3/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CASP8 NM_001228.4 ?/? c.647-64T>C r.(=) p.(=)