Genomic variant #0000238771

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69870005C>T
Reference Copied from the Exome Variant Server
DB-ID AAK1_000136
Frequency 3/12508
Freq. EA 0/8412
Freq. AA 3/4096
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.163+5G>A r.spl? p.?