Genomic variant #0001080164

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.44072136C>T
Reference Copied from the Exome Variant Server
DB-ID ACCSL_000049
Frequency 1/12320
Freq. EA 1/8350
Freq. AA 0/3970
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ACCSL NM_001031854.2 ?/? c.599C>T r.(?) p.(Thr200Ile)