Genomic variant #0001592119

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40125647C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000043
Frequency 15/12386
Freq. EA 3/8344
Freq. AA 12/4042
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.971C>T r.(?) p.(Pro324Leu)