Genomic variant #0001346364

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.81993073C>T
Reference Copied from the Exome Variant Server
DB-ID SEL1L_000116
Frequency 147/13006
Freq. EA 1/8600
Freq. AA 146/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SEL1L NM_005065.5 ?/? c.340+4G>A r.spl? p.?