Editing Single-nucleotide polymorphism (section)

== Nomenclature ==
The nomenclature for SNPs include several variations for an individual SNP, while lacking a common consensus.

The rs### standard is that which has been adopted by [[dbSNP]] and uses the prefix "rs", for "reference SNP", followed by a unique and arbitrary number.<ref>{{cite book | title = SNP FAQ Archive | location = Bethesda (MD) | publisher = U.S. National Center for Biotechnology Information | chapter-url = https://www.ncbi.nlm.nih.gov/books/NBK44417/ | chapter = Clustered RefSNPs (rs) and Other Data Computed in House |date=2005 }}</ref> SNPs are frequently referred to by their dbSNP rs number, as in the examples above.

The Human Genome Variation Society (HGVS) uses a standard which conveys more information about the SNP. Examples are:
* c.76A&gt;T: "c." for [[coding region]], followed by a number for the position of the nucleotide, followed by a one-letter abbreviation for the nucleotide (A, C, G, T, or U), followed by a greater than sign (">") to indicate substitution, followed by the abbreviation of the nucleotide which replaces the former<ref>{{Cite web|url=http://www.hgvs.org/mutnomen/recs.html|title=Recommendations for the description of sequence variants|author=J.T. Den Dunnen|date=2008-02-20|publisher=[[Human Genome Variation Society]]|url-status=live|archive-url=https://web.archive.org/web/20080914071152/http://www.hgvs.org/mutnomen/recs.html|archive-date=2008-09-14|access-date=2008-09-05}}</ref><ref>{{cite journal | vauthors = den Dunnen JT, Antonarakis SE | title = Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | journal = Human Mutation | volume = 15 | issue = 1 | pages = 7–12 | date = 2000 | pmid = 10612815 | doi = 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N | doi-access = free }}</ref><ref>{{cite journal | vauthors = Ogino S, Gulley ML, den Dunnen JT, Wilson RB | title = Standard mutation nomenclature in molecular diagnostics: practical and educational challenges | journal = The Journal of Molecular Diagnostics | volume = 9 | issue = 1 | pages = 1–6 | date = February 2007 | pmid = 17251329 | pmc = 1867422 | doi = 10.2353/jmoldx.2007.060081 | author5 = Association for Molecular Pathology Training and Education Committee }}</ref>
* p.Ser123Arg: "p." for protein, followed by a three-letter abbreviation for the amino acid, followed by a number for the position of the amino acid, followed by the abbreviation of the amino acid which replaces the former.<ref>{{Cite web|url=http://varnomen.hgvs.org/recommendations/general/|title=Sequence Variant Nomenclature|website=varnomen.hgvs.org|access-date=2019-12-02}}</ref>