Genomic variant #0001200409

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50475065G>T
Reference Copied from the Exome Variant Server
DB-ID ASIC1_000073
Frequency 1/12980
Freq. EA 1/8598
Freq. AA 0/4382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ASIC1 NM_020039.3 ?/? c.1538G>T r.(?) p.(Arg513Leu)