Skip to main content

Single Nucleotide Polymorphism (SNP)

  • Living reference work entry
  • First Online:
Encyclopedia of Animal Cognition and Behavior

Synonyms

Point mutation

Definition

SNPs are single nucleotide changes in genomic DNA at which different nucleotides occur in different individuals of a population. Each nucleotide at such a position denotes an allele of the SNP.

Introduction

Single nucleotide polymorphisms (SNPs), pronounced as “Snips,” is the common type of variation found in DNA between genes (Genetics Home Reference). Each SNP differs by a single DNA block represented as nucleotide. For example, a SNP may be replaced by adenine (A) in place of guanine (G) in a stretch of DNA. SNPs, if falling under coding region of genes, do not alter the amino acid sequence and, in turn, the sequence of protein produced. They are classified into two parts: synonymous, i.e., genes that do not bring any change in protein, and nonsynonymous, i.e., genes that bring change in amino acid sequence, which may be a missense (resulting in incorrect amino acid) or nonsense (not coding for any amino acid).

SNP density of existence can be...

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

  • Al-Haggar, M., Madej-Pilarczyk, A., Kozlowski, L., Bujnicki, J. M., Yahia, S., Abdel-Hadi, D., Shams, A., Ahmad, N., Hamed, S., & Puzianowska-Kuznicka, M. (2012). A homozygous p.Arg527Leu LMNA mutation in the two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. European Journal of Human Genetics, 20, 1134–1140.

    Article  Google Scholar 

  • Cao, R., Shi, Y., Chen, S., Ma, Y., Chen, J., Yang, J., Chen, G., & Shi, T. (2016). dbSAP: Single amino-acid polymorphism database for protein variation detection. Nucleic Acids Research, 45, 827–832.

    Article  Google Scholar 

  • Cordovado, S. K., Hendrix, M., Greene, C. N., Mochal, S., Earley, M. C., Farrell, P. M., Kharrazi, M., Hannon, W. H., & Mueller, P. W. (2012). CFTR mutation analysis and haplotype associations in CF patients. Molecular Genetics and Metabolism, 105, 249–254.

    Article  Google Scholar 

  • Giegling, I., Hartmann, A. M., Möller, H. J., & Rujescu, D. (2006). Anger- and aggression-related traits are associated with polymorphisms in the 5-HT-2A gene. Journal of Affective Disorders, 96, 75–81.

    Article  Google Scholar 

  • Glusman, G., Caballero, J., Mauldin, D. E., Hood, L., & Roach, J. C. (2011). Kaviar: An accessible system for testing SNV novelty. Bioinformatics, 27, 3216–3217.

    Article  Google Scholar 

  • Ji, G., Long, Y., Zhou, Y., Huang, C., Gu, A., & Wang, X. (2012). Common variants in mismatch repair genes are associated with increased risk of sperm DNA damage and male infertility. BMC Medicine, 10, 49.

    Article  Google Scholar 

  • Kimchi, S. C., Oh, J. M., Kim, I. W., Sauna, Z. E., Calcagno, A. M., Ambudkar, S. V., & Gottesman, M. M. (2007). A silent polymorphism in the MDR1 gene changes substrate specificity. Science, 315, 525–528.

    Article  Google Scholar 

  • Kujovich, J. L. (2011). Factor V Leiden thrombophilia. Genetics in Medicine, 13, 1–16.

    Article  Google Scholar 

  • Mohamed, A. A., Elsaid, O. M., Amer, E. A., Gerges, S. S., Saleh, M. A., El Abd, Y. S., Elosaily, H. H., Sleem, M. I., & El Shimy, A. (2017). Clinical significance of SNP (rs2596542) in histocompatibility complex class I-related gene A promoter region among hepatitis C virus related hepatocellular carcinoma cases. Journal of Advanced Research, 8, 343–349.

    Article  Google Scholar 

  • Morita, A., Nakayama, T., Doba, N., Hinohara, S., Mizutani, T., & Soma, M. (2007). Genotyping of triallelic SNPs using TaqMan PCR. Molecular and Cellular Probes, 21, 171–176.

    Article  Google Scholar 

  • Singh, M., Singh, P., Juneja, P. K., Singh, S., & Kaur, T. (2010). SNP–SNP interactions within APOE genes, influencing the plasma lipids in postmenopausal osteoporosis. Rheumatology International, 31, 421–423.

    Article  Google Scholar 

  • Wei, Q., Wang, L., Wang, Q., Kruger, W. D., & Dunbrack, R. L., Jr. (2010). Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. Proteins, 78, 2058–2074.

    Google Scholar 

  • Wilkinson, D. G., Francis, P. T., Schwam, E., & Payne-Parrish, J. (2004). Cholinesterase inhibitors used in the treatment of alzheimer’s disease: the relationship between pharmacological effects and clinical efficacy. Drugs & Aging, 21, 453–478.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Abhimanyu Kumar Jha .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Mathur, R., Rana, B.S., Jha, A.K. (2018). Single Nucleotide Polymorphism (SNP). In: Vonk, J., Shackelford, T. (eds) Encyclopedia of Animal Cognition and Behavior. Springer, Cham. https://doi.org/10.1007/978-3-319-47829-6_2049-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-47829-6_2049-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-47829-6

  • Online ISBN: 978-3-319-47829-6

  • eBook Packages: Springer Reference Behavioral Science and PsychologyReference Module Humanities and Social SciencesReference Module Business, Economics and Social Sciences

Publish with us

Policies and ethics