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DbSNP

dbSNP
US-NLM-NCBI-Logo.svg
Content
Description Single Nucleotide Polymorphism Database
Organisms all
Contact
Research center National Center for Biotechnology Information
Primary citation PMID 21097890
Release date 1998
Access
Data format ASN.1, Fasta, XML
Website www.ncbi.nlm.nih.gov/projects/SNP/
Download URL ftp://ftp.ncbi.nih.gov/snp/
Web service URL EUtils
SOAP

The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a collection of one class of polymorphisms only (i.e., single nucleotide polymorphisms (SNPs)), it in fact contains a range of molecular variation: (1) SNPs, (2) short deletion and insertion polymorphisms (indels/DIPs), (3) microsatellite markers or short tandem repeats (STRs), (4) multinucleotide polymorphisms (MNPs), (5) heterozygous sequences, and (6) named variants. The dbSNP accepts apparently neutral polymorphisms, polymorphisms corresponding to known phenotypes, and regions of no variation. It was created in September 1998 to supplement GenBank, NCBI’s collection of publicly available nucleic acid and protein sequences.

As of build 131 (available February 2010), dbSNP had amassed over 184 million submissions representing more than 64 million distinct variants for 55 organisms, including Homo sapiens, Mus musculus, Oryza sativa, and many other species. A full list of organisms and the number of submissions for each can be found at: http://www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi

dbSNP is an online resource implemented to aid biology researchers. Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide variety of genetically based natural phenomenon. Specifically, access to the molecular variation cataloged within dbSNP aids basic research such as physical mapping, population genetics, investigations into evolutionary relationships, as well as being able to quickly and easily quantify the amount of variation at a given site of interest. In addition, dbSNP guides applied research in pharmacogenomics and the association of genetic variation with phenotypic traits. According to the NCBI website, “The long-term investment in such novel and exciting research [dbSNP] promises not only to advance human biology but to revolutionise the practice of modern medicine.”


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