Genomic variant #0001080181

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.44073225G>T
Reference Copied from the Exome Variant Server
DB-ID ACCSL_000052
Frequency 2/12646
Freq. EA 0/8432
Freq. AA 2/4214
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ACCSL NM_001031854.2 ?/? c.728G>T r.(?) p.(Cys243Phe)