Genomic variant #0000046286

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.31349589G>T
Reference Copied from the Exome Variant Server
DB-ID SDC3_000052
Frequency 2/12992
Freq. EA 0/8590
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SDC3 NM_014654.3 ?/? c.680C>A r.(?) p.(Pro227His)