Genomic variant #0000694271

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.134350425del
Reference Copied from the Exome Variant Server
DB-ID SLC2A12_000063
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SLC2A12 NM_145176.2 ?/? c.538del r.(?) p.(Leu180Phefs*24)