Genomic variant #0001136405

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95546259A>C
Reference Copied from the Exome Variant Server
DB-ID CEP57_000026
Frequency 2/12998
Freq. EA 2/8596
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.366A>C r.(?) p.(Glu122Asp)