What is Single-Nucleotide Polymorphism?

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Discussion Overview

The discussion centers around the concept of single-nucleotide polymorphism (SNP), exploring its definition, significance in genetic diversity, and its prevalence in the human genome. The scope includes theoretical aspects and implications for genetic research.

Discussion Character

  • Exploratory, Technical explanation, Conceptual clarification

Main Points Raised

  • One participant asks for clarification on what single-nucleotide polymorphism is.
  • Another participant describes SNPs as variations of single base pairs in the human genome, noting their role in measuring genetic diversity and their utility in gene mapping studies.
  • A question is raised regarding whether the estimated one million SNPs include those found in non-coding regions, often referred to as junk DNA.
  • A subsequent reply suggests that the majority of these SNPs are indeed found in junk DNA, as only a small percentage of DNA is coding, and mentions that a variation is classified as a SNP if it occurs in at least 1% of a population. This participant also states that SNPs account for 90% of human genetic variation and cites nearly 1.8 million characterized SNPs by the SNP consortium.

Areas of Agreement / Disagreement

The discussion presents multiple viewpoints regarding the classification and significance of SNPs, particularly concerning their presence in coding versus non-coding DNA. There is no consensus on the implications of these variations.

Contextual Notes

Participants reference the classification of SNPs based on population frequency and the distinction between coding and non-coding DNA, which may depend on specific definitions and assumptions about genetic variation.

Sir123
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What is is single-nucleotide polymorphism ?
TIA
 
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Variations of single base pairs scattered throughout the human genome that serve as measures of the genetic diversity in humans. About 1 million SNPs are estimated to be present in the human genome, and SNPs are useful markers for gene mapping studies.

http://www.geneed.com/glossary/s/index.html
 
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When you say a million in the genome, does that include ones in the so-called junk DNA?
 
That would mainly include junk DNA since only 3-5% of our DNA is coding. A variation is only considered a SNP if it occurs in at least 1% of a population. SNPs make up 90% of all human genetic variation. Actually nearly 1.8 million SNPs have been characterized by the SNP consortium :)
 

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