Genomic variant #0001346380

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.81999975G>A
Reference Copied from the Exome Variant Server
DB-ID SEL1L_000132
Frequency 5/12388
Freq. EA 0/8210
Freq. AA 5/4178
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SEL1L NM_005065.5 ?/? c.70+44C>T r.(=) p.(=)