Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene

J Hum Genet. 2000;45(1):58-9. doi: 10.1007/s100380050012.

Abstract

We found a single nucleotide polymorphism (SNP) in exon 3 of the human organic cation transporter-like 2-antisense (ORCTL2S) gene: a base substitution A266G which was confirmed by direct sequencing. Heterozygosity of the polymorphic alleles was 0.45 in a Japanese population. This polymorphism will be useful in the allelic expression analysis of the ORCTL2S gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 11
  • DNA, Antisense
  • Exons
  • Gene Frequency
  • Humans
  • Japan / epidemiology
  • Membrane Proteins / genetics*
  • Mutation, Missense
  • Organic Cation Transport Proteins*
  • Polymorphism, Single Nucleotide

Substances

  • Carrier Proteins
  • DNA, Antisense
  • Membrane Proteins
  • Organic Cation Transport Proteins
  • SLC22A18 protein, human
  • SLC22A18AS protein, human