Genomic variant #0001595580

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.41116170G>A
Reference Copied from the Exome Variant Server
DB-ID AARSD1_000088
Frequency 17/13006
Freq. EA 0/8600
Freq. AA 17/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARSD1 NM_001261434.1 ?/? c.124C>T r.(?) p.(Gln42*)