Genomic variant #0001346377

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.81994070C>T
Reference Copied from the Exome Variant Server
DB-ID SEL1L_000129
Frequency 48/13002
Freq. EA 22/8596
Freq. AA 26/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SEL1L NM_005065.5 ?/? c.83G>A r.(?) p.(Ser28Asn)