Genomic variant #0001140389

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.105950249_105950250insT
Reference Copied from the Exome Variant Server
DB-ID AASDHPPT_000019
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDHPPT NM_015423.2 ?/? c.239_240insT r.(?) p.(His81Serfs*28)