Genomic variant #0000397481

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81810654C>T
Reference Copied from the Exome Variant Server
DB-ID GBE1_000133
Frequency 12/12002
Freq. EA 12/8160
Freq. AA 0/3842
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.15G>A r.(?) p.(Met5Ile)