Genomic variant #0001592081

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120287G>A
Reference Copied from the Exome Variant Server
DB-ID CNP_000005
Frequency 1/12702
Freq. EA 1/8474
Freq. AA 0/4228
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.205G>A r.(?) p.(Val69Ile)