Genomic variant #0001136472

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95561187A>C
Reference Copied from the Exome Variant Server
DB-ID CEP57_000086
Frequency 2/12996
Freq. EA 0/8594
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.1123A>C r.(?) p.(Ser375Arg)