Genomic variant #0001082983

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46806070C>T
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000171
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.2122G>A r.(?) p.(Glu708Lys)