Genomic variant #0000316605

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.219131291C>T
Reference Copied from the Exome Variant Server
DB-ID AAMP_000059
Frequency 1/12990
Freq. EA 0/8592
Freq. AA 1/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAMP NM_001087.3 ?/? c.554G>A r.(?) p.(Arg185Gln)