Genomic variant #0001592085

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120464C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000009
Frequency 1/12416
Freq. EA 1/8352
Freq. AA 0/4064
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.382C>T r.(?) p.(Arg128Trp)