Genomic variant #0001080163

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.44072127T>C
Reference Copied from the Exome Variant Server
DB-ID ACCSL_000047
Frequency 2/12348
Freq. EA 2/8362
Freq. AA 0/3986
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ACCSL NM_001031854.2 ?/? c.590T>C r.(?) p.(Ile197Thr)