Genomic variant #0001107044

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.64811880C>T
Reference Copied from the Exome Variant Server
DB-ID SAC3D1_000019
Frequency 1/12594
Freq. EA 0/8418
Freq. AA 1/4176
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAC3D1 NM_013299.3 ?/? c.758C>T r.(?) p.(Ala253Val)