Single Nucleotide Polymorphism (SNP)

Anthony J Brookes, Karolinska Institute, Stockholm, Sweden

Published online: December 2007

DOI: 10.1002/9780470015902.a0005006.pub2

A single nucleotide polymorphism (SNP) is an abundant form of genome sequence variation comprising single base pair alternatives represented at a population frequency of more than 1%. SNPs contribute greatly to the genetic basis of phenotypic variation in ways yet to be fully understood.

Keywords: genome; variation; polymorphism; allele; haplotype

Figure 1. Observed levels of nucleotide diversity () in and around human genes. A simple two-exon gene is represented in genomic DNA and processed messenger RNA (mRNA) forms, with various subdomains (including degeneracy classes of coding nucleotides) marked to illustrate the typically observed levels of sequence variation reported across a range of publications. There is, however, a disparity in sequence variability of well over 10-fold between different genes and chromosomal regions. cDNA: complementary DNA; UTR: untranslated region; CDS: coding sequence.
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    Lercher MJ and Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends in Genetics 18: 337–340.
    Przeworski M, Hudson RR and Rienzo AD (2000) Adjusting the focus on human variation. Trends in Genetics 16: 296–302.
    Schork NJ, Fallin D and Lanchbury JS (2000) Single nucleotide polymorphisms and the future of genetic epidemiology. Clinical Genetics 58: 250–264.
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Related Sub-Topics:

Molecular Genetics of Common and Complex Disease | Mutational Mechanisms of Genetic Disease | Gene and Genome Structure and Organisation | Inter-Individual Variation and Polymorphism | DNA Structure and Function | Evolution of Coding and Functional Modules | DNA Damage and Repair | Nucleic Acids: Structure, Function, Metabolism
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Article Title: Single Nucleotide Polymorphism (SNP)
 
How to Cite close
Brookes, Anthony J(Dec 2007) Single Nucleotide Polymorphism (SNP). In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005006.pub2]