Genomic variant #0000046296

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.31349713C>T
Reference Copied from the Exome Variant Server
DB-ID SDC3_000065
Frequency 1/12968
Freq. EA 1/8572
Freq. AA 0/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SDC3 NM_014654.3 ?/? c.556G>A r.(?) p.(Ala186Thr)