Genomic variant #0001592128

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40125763G>A
Reference Copied from the Exome Variant Server
DB-ID CNP_000052
Frequency 1/12396
Freq. EA 1/8356
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.1087G>A r.(?) p.(Glu363Lys)