Genomic variant #0000238735

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69754344G>A
Reference Copied from the Exome Variant Server
DB-ID AAK1_000114
Frequency 3/11876
Freq. EA 0/8180
Freq. AA 3/3696
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.975+4C>T r.spl? p.?