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Single-nucleotide polymorphism
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== Examples == * [[rs6311]] and [[rs6313]] are SNPs in the [[HTR2A|Serotonin 5-HT2A receptor]] gene on human chromosome 13.<ref name="GieglingI2006Anger">{{cite journal | vauthors = Giegling I, Hartmann AM, Möller HJ, Rujescu D | title = Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene | journal = Journal of Affective Disorders | volume = 96 | issue = 1–2 | pages = 75–81 | date = November 2006 | pmid = 16814396 | doi = 10.1016/j.jad.2006.05.016 }}</ref> * The SNP − 3279C/A (rs3761548) is amongst the SNPs locating in the promoter region of the [[Foxp3]] gene, might be involved in cancer progression.<ref>{{cite journal | vauthors = Ezzeddini R, Somi MH, Taghikhani M, Moaddab SY, Masnadi Shirazi K, Shirmohammadi M, Eftekharsadat AT, Sadighi Moghaddam B, Salek Farrokhi A | title = Association of Foxp3 rs3761548 polymorphism with cytokines concentration in gastric adenocarcinoma patients | journal = Cytokine | volume = 138 | issue = | pages = 155351 | date = February 2021 | pmid = 33127257 | doi = 10.1016/j.cyto.2020.155351 | s2cid = 226218796 | url=| issn =1043-4666 }}</ref> * A SNP in the ''[[F5 (gene)|F5]]'' gene causes [[Factor V Leiden|Factor V Leiden thrombophilia.]]<ref>{{cite journal | vauthors = Kujovich JL | title = Factor V Leiden thrombophilia | journal = Genetics in Medicine | volume = 13 | issue = 1 | pages = 1–16 | date = January 2011 | pmid = 21116184 | doi = 10.1097/GIM.0b013e3181faa0f2 | doi-access = free }}</ref> * [[rs3091244]] is an example of a triallelic SNP in the [[C-reactive protein|CRP]] gene on human chromosome 1.<ref>{{cite journal | vauthors = Morita A, Nakayama T, Doba N, Hinohara S, Mizutani T, Soma M | title = Genotyping of triallelic SNPs using TaqMan PCR | journal = Molecular and Cellular Probes | volume = 21 | issue = 3 | pages = 171–6 | date = June 2007 | pmid = 17161935 | doi = 10.1016/j.mcp.2006.10.005 }}</ref> * [[TAS2R38]] codes for [[Phenylthiocarbamide|PTC]] tasting ability, and contains 6 annotated SNPs.<ref name="pmid15466815">{{cite journal | vauthors = Prodi DA, Drayna D, Forabosco P, Palmas MA, Maestrale GB, Piras D, Pirastu M, Angius A | title = Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene | journal = Chemical Senses | volume = 29 | issue = 8 | pages = 697–702 | date = October 2004 | pmid = 15466815 | doi = 10.1093/chemse/bjh074 | doi-access = free }}</ref> * rs148649884 and rs138055828 in the ''[[FCN1]]'' gene encoding M-ficolin crippled the ligand-binding capability of the recombinant M-ficolin.<ref>{{cite journal | vauthors = Ammitzbøll CG, Kjær TR, Steffensen R, Stengaard-Pedersen K, Nielsen HJ, Thiel S, Bøgsted M, Jensenius JC | title = Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin | journal = PLOS ONE | volume = 7 | issue = 11 | pages = e50585 | date = 28 November 2012 | pmid = 23209787 | pmc = 3509001 | doi = 10.1371/journal.pone.0050585 | bibcode = 2012PLoSO...750585A | doi-access = free }}</ref> * rs12821256 on a ''cis''-regulatory module changes the amount of transcription of the [[KIT ligand]] gene. Among northern Europeans, high levels of transcription leads to brown hair, and low levels leads to blond hair. This is an example of overt but non-pathological phenotype change by one SNP.<ref>{{Cite journal |last1=Guenther |first1=Catherine A. |last2=Tasic |first2=Bosiljka |last3=Luo |first3=Liqun |last4=Bedell |first4=Mary A. |last5=Kingsley |first5=David M. |date=July 2014 |title=A molecular basis for classic blond hair color in Europeans |journal=Nature Genetics |language=en |volume=46 |issue=7 |pages=748–752 |doi=10.1038/ng.2991 |pmid=24880339 |issn=1546-1718|pmc=4704868 }}</ref> * An [[intron]]ic SNP in [[DNA mismatch repair]] gene ''[[PMS2]]'' (rs1059060, Ser775Asn) is associated with increased [[sperm]] [[DNA damage (naturally occurring)|DNA damage]] and risk of [[male infertility]].<ref name="pmid22594646">{{cite journal | vauthors = Ji G, Long Y, Zhou Y, Huang C, Gu A, Wang X | title = Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility | journal = BMC Medicine | volume = 10 | pages = 49 | date = May 2012 | pmid = 22594646 | pmc = 3378460 | doi = 10.1186/1741-7015-10-49 | doi-access = free }}</ref>
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