Aliases for LOC110599567 Gene
External Ids for LOC110599567 Gene
- Entrez Gene: 110599567
This region is a highly variable minisatellite region found within an intron of the on the protein tyrosine phosphatase, receptor type N2 (PTPRN2) gene, on the q arm of chromosome 7. The D7S22 minisatellite is an unstable GC-rich variable number tandem repeat (VNTR) with repeat units of 33-37 nucleotides in length and strand asymmetry in nucleotide composition. The consensus sequence of the repeat unit is AGAAAGGCGGGYGGTGTGGGCAGGGAGRGGCAGGAAT, relative to the minus strand of the reference genome. 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. The repeat is an imperfect repeat, with a tandem array of similar, but non-identical repeats. This region shows very high heterozygosity, with some alleles having as few as six repeat units, while others have more than 525 repeat units. Instability at this locus is observed in germline cells, with a paternal bias in the mutation rate, and a higher mutation rate in alleles with larger repeat arrays. [provided by RefSeq, Jul 2017]
GeneCards Summary for LOC110599567 Gene
LOC110599567 (D7S22 Minisatellite Repeat Instability Region) is a Biological Region gene.