SNP

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Definition

Noun: - Single Nucleotide Polymorphism: A type of genetic variation where a single building block (nucleotide) in the DNA sequence differs between individuals or between paired chromosomes in an individual. These are common, stable variations that occur at a specific point in the genome within a significant portion of a population.

Usage Examples
  • Noun:
    • Researchers identified an SNP associated with increased risk for the disease.
    • The frequency of this particular SNP differs across global populations.
    • Genetic testing can detect specific SNPs in your DNA.
Advanced Usage
  • "SNP genotyping": The process of determining which genetic variant (allele) an individual possesses at a specific SNP location.
    • SNP genotyping is a crucial tool in genome-wide association studies.
  • "SNP array": A type of DNA microarray used to detect polymorphisms at numerous SNP sites simultaneously.
    • The lab analyzed the sample using a high-density SNP array.
  • "SNP density": The number of SNPs found in a given length of DNA sequence.
    • The SNP density was higher in the non-coding region of the chromosome.
Variants and Related Words
  • Polymorphism (n): The general occurrence of two or more clearly different forms or variants in a population. An SNP is one specific type of polymorphism.
  • Variant (n): A general term for a specific version of a DNA sequence. An SNP is a common form of genetic variant.
  • Allele (n): One of two or more alternative forms of a gene or genetic locus. Different nucleotides at an SNP site represent different alleles.
  • Point Mutation (n): A broader category of mutation involving a change in a single nucleotide pair. An SNP is a point mutation that has become common in a population.
Synonyms
  • Genetic marker: (A broader term; many genetic markers are SNPs.)
  • Point polymorphism: (A more technical synonym emphasizing it is a single-point variation.)
Related Phrases
  • Common SNP: An SNP where the less frequent allele occurs in at least 1-5% of the population.
    • The study focused on common SNPs to ensure statistical power.
  • Rare SNP: An SNP where the less frequent allele occurs in less than 1% of the population.
  • Ancestry-informative SNP: An SNP whose allele frequencies differ substantially between populations, useful for tracing genetic ancestry.
    • The test uses a panel of ancestry-informative SNPs.
Notes
  • The term is almost always used in its abbreviated form "SNP" (pronounced "snip"). The full term "single nucleotide polymorphism" is used in formal definitions and introductory contexts.
  • SNPs are distinct from rarer mutations; they represent normal, common variations in the human genome and are a primary source of genetic diversity.
Noun
  1. (genetics) genetic variation in a DNA sequence that occurs when a single nucleotide in a genome is altered; SNPs are usually considered to be point mutations that have been evolutionarily successful enough to recur in a significant proportion of the population of a species

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