LinkedDataHub - Single-nucleotide polymorphism

Single-nucleotide polymorphism

Single-nucleotide polymorphism

In genetics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold.

Comment: enIn genetics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold.
Date: 18 June 2007; 13 October 2008; 19 January 2010; 20 December 2016
Depiction
Has abstract: enIn genetics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with increased risk of the disease). The severity of illness and the way the body responds to treatments are also manifestations of genetic variations caused by SNPs. For example, the APOE E4 allele that is determined by two common SNPs, rs429358 and rs7412, in the APOE gene is not only associated with increased risk for Alzheimer’s disease but also younger age at onset of the disease. A single-nucleotide variant (SNV) is a general term for single nucleotide change in DNA sequence. So a SNV can be a common SNP or a rare mutation, and can be germline or somatic and can be caused by cancer, but a SNP has to segregate in a species' population of organisms. SNVs also commonly arise in molecular diagnostics such as designing PCR primers to detect viruses, in which the viral RNA or DNA sample may contain SNVs.
Hypernym: Variation
Is primary topic of: Single-nucleotide polymorphism
Label: enSingle-nucleotide polymorphism
Link from a Wikipage to an external page: genomicscomputbiol.org/ojs3/GCB/article/view/48/182; www.informatics.jax.org/mgihome/nomen/gene.shtml; www.argusbio.com/sooryakiran/gensnip/gensnip.php; web.archive.org/web/20100119054656/http:/www.argusbio.com/sooryakiran/gensnip/gensnip.php; web.archive.org/web/20070713202727/http:/www.gene.ucl.ac.uk/nomenclature/guidelines.html; db.systemsbiology.net/kaviar/; genetics.bwh.harvard.edu/pph2/; loschmidt.chemi.muni.cz/predictsnp/; opensnp.org/; snpeff.sourceforge.net/; www.1000genomes.org/; www.mutationtaster.org/; www.sbg.bio.ic.ac.uk/~missense3d/; gsponerlab.msl.ubc.ca/software/list/; web.archive.org/web/20130903043223/http:/snp.cshl.org/; www.ncbi.nlm.nih.gov/projects/SNP/; www.ensembl.org/info/docs/tools/vep/index.html; www.megabionet.org/dbSAP/index.html; www.sbg.bio.ic.ac.uk/suspect/index.html; web.archive.org/web/20161220181135/http:/www.megabionet.org/dbSAP/index.html; provean.jcvi.org/index.php; www.hgmd.cf.ac.uk/ac/index.php; bioinfo.iconcologia.net/index.php%3Fmodule=Snpstats; web.archive.org/web/20081013230642/http:/bioinfo.iconcologia.net/index.php%3Fmodule=Snpstats; www.nature.com/nrg/journal/v5/n2/glossary/nrg1270_glossary.html; phyrerisk.bc.ic.ac.uk; insilico.ehu.es/restriction; sift-dna.org; rostlab.org/services/snap; web.archive.org/web/20080924131744/http:/www.aacr.org/home/public--media/for-the-media/fact-sheets/cancer-concepts/snps.aspx; www.ncbi.nlm.nih.gov/About/primer/snps.html; web.archive.org/web/20120420021612/http:/www.ornl.gov/sci/techresources/Human_Genome/faq/snps.shtml; watcut.uwaterloo.ca/watcut/watcut/template.php; web.archive.org/web/20070618114401/http:/watcut.uwaterloo.ca/watcut/watcut/template.php; www.gwascentral.org; www.pharmgkb.org
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SameAs: 4eQWs; Egypontos nukleotid-polimorfizmus; Einzelnukleotid-Polymorphismus; Enbaspolymorfi; Enkel-nucleotide-polymorfie; Enkeltnukleotidpolymorfi; Enkeltnukleotidpolymorfi; Jednonukleotidni polimorfizam; Jednonukleotidni polimorfizam; Jednonukleotidový polymorfismus; m.02k7vd; Polimorfisme de nucleòtids simples; Polimorfisme nukleotida tunggal; Polimorfismo a singolo nucleotide; Polimorfismo de nucleotídeo único; Polimorfismo de nucleótido único; Polimorfismo dun só nucleótido; Polimorfism uninucleotidic; Polimorfizm pojedynczego nukleotydu; Polymorphisme nucléotidique; Polymorphismus nucleotidi singularis; Q501128; Single nucleotide polymorphism; Single-nucleotide polymorphism; Single-nucleotide polymorphism; SNP; Üksiku nukleotiidi polümorfism; Yhden emäksen monimuotoisuus; Једнонуклеотидни полиморфизам; Однонуклеотидний поліморфізм; Однонуклеотидный полиморфизм; تعدد أشكال النوكليوتيدات المفردة; واحد مرثالثہ کثیرشکلیت; چندریختی تک-نوکلئوتید; ซิงเกิลนิวคลีโอไทด์โพลีมอร์ฟิซึม; 一塩基多型; 單核苷酸多態性; 단일염기 다형성
Subject: Category:Biotechnology; Category:DNA; Category:Genetic genealogy; Category:Molecular biology; Category:Mutation; Category:Population genetics; Category:Single-nucleotide polymorphisms
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