Genomic variant #0000911419

Chromosome 9
DNA change (genomic) (Relative to hg19 / GRCh37) g.94809555G>A
Reference Copied from the Exome Variant Server
DB-ID SPTLC1_000053
Frequency 46/13006
Freq. EA 1/8600
Freq. AA 45/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC1 NM_006415.2 ?/? c.985-5C>T r.spl? p.?