STRs database » TBP locus
Gene TBP
Location Coding in 6q27
Reference region chr6:170561907-170562015 (hg38)
chr6:170870995-170871103 (hg19)
chr6:171935459-171935567 (hs1)
Repeat unit CAG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Research has shown that individuals who have at least 43 repeats of CAG in the coding region of the TBP gene are developing the spinocerebellar ataxia type 17 (SCA17) disease (Silveira et al., 2002). In a healthy population repeats range from 25 to 42 (Koide et al., 1999).

→ View STRipy's population-wide repeat data for TBP locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 17 (SCA17) Paediatric/Adult Autosomal dominant 25-42 - ≥43