Genomic variant #0000660348

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.44280812C>T
Reference Copied from the Exome Variant Server
DB-ID AARS2_000221
Frequency 6468/13004
Freq. EA 4850/8598
Freq. AA 1618/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.2 ?/? c.243+6G>A r.(=) p.(=)