Genomic variant #0000238750

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69769642G>C
Reference Copied from the Exome Variant Server
DB-ID AAK1_000140
Frequency 1/12230
Freq. EA 0/8318
Freq. AA 1/3912
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.534+13C>G r.(=) p.(=)