Genomic variant #0000238760

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69771681G>C
Reference Copied from the Exome Variant Server
DB-ID AAK1_000152
Frequency 1/12032
Freq. EA 1/8236
Freq. AA 0/3796
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.283-5C>G r.spl? p.?