Genomic variant #0000238691

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69734713A>G
Reference Copied from the Exome Variant Server
DB-ID AAK1_000070
Frequency 1/11872
Freq. EA 0/8164
Freq. AA 1/3708
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.2007-3T>C r.spl? p.?