STRs database » NOP56 locus
Gene NOP56
Location Intron in 20p13
Reference region chr20:2652733-2652757 (hg38)
chr20:2633379-2633403 (hg19)
Repeat unit GGCCTG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Expansions of a hexanucleotide repeat GGCCTG in the intron 1 region of NOP56 gene causes spinocerebellar ataxia type 36 (SCA36) (Kobayashi et al., 2011). The healthy population usually has 3-14 repeats whereas in affected individuals, the pathogenic allele typically has long expansions, ranging from 650 to 2500 repeats (GarcĂ­a-Murias et al., 2012; Kobayashi et al., 2011). However, much shorter alleles (25, 30 and 31 hexanucleotide repeats) have been found in three affected individuals (Obayashi et al., 2014) demonstrating that the disease can be caused by small expansions as well.

→ View STRipy's population-wide repeat data for NOP56 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 36 (SCA36) Adult Autosomal dominant 3-14 - ≥25