Genomic variant #0001083000

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46812106G>C
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000189
Frequency 3/13000
Freq. EA 0/8598
Freq. AA 3/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.1678C>G r.(?) p.(Pro560Ala)