Genomic variant #0001083060

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46839831T>C
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000249
Frequency 2/12998
Freq. EA 2/8598
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.251+30A>G r.(=) p.(=)