Aliases for LOC110594337 Gene
- B6.7 Minisatellite Repeat Instability Region 3
External Ids for LOC110594337 Gene
- Entrez Gene: 110594337
This region is a highly variable minisatellite region on the q arm of chromosome 20. This unstable variable number tandem repeat (VNTR) has a repeat unit length of 34 nucleotides, with a tandem array of similar, but non-identical repeats. The consensus repeat motif is TCTCTAYAGGMCAYGAGRGTKGACAGTGAGGGGG,relative to the minus strand of the reference genome, with Y, R, M, and K being pyrimidine, purine, amino and keto, according to the IUPAC nucleotide code. Sequences within the consensus repeat sequence shares similarity to the PRDM9 A binding motif (LD hotspot motif), differing by just a single nucleotide from the 13-mer consensus motif, CCNCCNTNNCCNC, compared to the plus strand of the reference genome. There is a meiotic recombination hotspot that overlaps the repeat region. This region shows very high heterozygosity, and has alleles ranging from six repeat units to greater than 500 repeat units. Differences in allele structures are seen amongst different populations. Instability at this locus is observed in germline cells, with a much lower incidence of instability in somatic cells. Repeat instability is seen in both maternal and paternal germlines, with higher instability seen in alleles with larger repeat arrays. The very high heterozygosity of this region and its high mutation rate makes it useful for forensic analyses and monitoring of mutation rates. [provided by RefSeq, Jul 2017]
GeneCards Summary for LOC110594337 Gene
LOC110594337 (B6.7 Minisatellite Repeat Instability Region) is a Biological Region gene.