Genomic variant #0000324587

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.227661213C>T
Reference Copied from the Exome Variant Server
DB-ID IRS1_000079
Frequency 1/13004
Freq. EA 1/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IRS1 NM_005544.2 ?/? c.2242G>A r.(?) p.(Asp748Asn)