Genomic variant #0001603745

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.46111216G>C
Reference Copied from the Exome Variant Server
DB-ID COPZ2_000033
Frequency 1/12536
Freq. EA 1/8412
Freq. AA 0/4124
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
COPZ2 NM_016429.2 ?/? c.264+13C>G r.(=) p.(=)