Genomic variant #0001603723

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.46106543C>T
Reference Copied from the Exome Variant Server
DB-ID COPZ2_000011
Frequency 1/12222
Freq. EA 1/8292
Freq. AA 0/3930
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
COPZ2 NM_016429.2 ?/? c.491-1G>A r.spl? p.?