Genomic variant #0001136464

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95561013C>T
Reference Copied from the Exome Variant Server
DB-ID CEP57_000078
Frequency 7/12998
Freq. EA 6/8596
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.949C>T r.(?) p.(His317Tyr)