Genomic variant #0001107056

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.64812064C>G
Reference Copied from the Exome Variant Server
DB-ID SAC3D1_000031
Frequency 1/12600
Freq. EA 1/8394
Freq. AA 0/4206
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAC3D1 NM_013299.3 ?/? c.942C>G r.(?) p.(Tyr314*)