Genomic variant #0001592118

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40125632C>A
Reference Copied from the Exome Variant Server
DB-ID CNP_000042
Frequency 1/12468
Freq. EA 1/8368
Freq. AA 0/4100
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.956C>A r.(?) p.(Pro319His)