Genomic variant #0001107053

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.64811994G>A
Reference Copied from the Exome Variant Server
DB-ID SAC3D1_000028
Frequency 9/12332
Freq. EA 0/8320
Freq. AA 9/4012
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAC3D1 NM_013299.3 ?/? c.872G>A r.(?) p.(Arg291Gln)