Genomic variant #0001592086

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120465G>A
Reference Copied from the Exome Variant Server
DB-ID CNP_000010
Frequency 1/12424
Freq. EA 0/8354
Freq. AA 1/4070
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.383G>A r.(?) p.(Arg128Gln)