Genomic variant #0001136460

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95560971G>A
Reference Copied from the Exome Variant Server
DB-ID CEP57_000074
Frequency 1/12998
Freq. EA 0/8596
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.907G>A r.(?) p.(Val303Met)