Genomic variant #0001082977

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46804816T>G
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000170
Frequency 2/12998
Freq. EA 1/8596
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.2249+8A>C r.(=) p.(=)