Genomic variant #0001601484

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060720G>T
Reference Copied from the Exome Variant Server
DB-ID MAPT_000050
Frequency 1/12962
Freq. EA 1/8582
Freq. AA 0/4380
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.550G>T r.(?) p.(Ala184Ser)