Genomic variant #0001508347

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.70305778C>T
Reference Copied from the Exome Variant Server
DB-ID AARS_000190
Frequency 1/12996
Freq. EA 0/8600
Freq. AA 1/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 ?/? c.577G>A r.(?) p.(Asp193Asn)