Genomic variant #0001083056

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46837930C>T
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000245
Frequency 24/13000
Freq. EA 1/8598
Freq. AA 23/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.277G>A r.(?) p.(Val93Ile)