Genomic variant #0001592121

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40125690C>A
Reference Copied from the Exome Variant Server
DB-ID CNP_000045
Frequency 2/12334
Freq. EA 2/8294
Freq. AA 0/4040
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.1014C>A r.(?) p.(Asp338Glu)