Genomic variant #0001082993

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46811613C>T
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000182
Frequency 33/13000
Freq. EA 31/8598
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.1875+13G>A r.(=) p.(=)