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A Single Nucleotide Polymorphism is a source variance in a genome. A SNP is a single base mutation in DNA. SNPs are the most simple form and most common source of genetic polymorphism in the human genome (90% of all human DNA polymorphisms).
There are two types of nucleotide base substitutions resulting in SNPs
A transition substitution occurs between purines (A, G) or between pyrimidines (C, T). This type of substitution constitutes two thirds of all SNPs. A transversion substitution occurs between a purine and a pyrimidine.
Sequence variation caused by SNPs can be measured in terms of nucleotide diversity, the ratio of the number of base differences between two genomes over the number of bases compared. This is approximately 1/1000 base pairs between two equivalent chromosomes.
Pharmacogenomics All aspects of pharmacogenomics require data from high-throughput genotyping, specifically the target population for a drug or the population of people who react poorly to the drug. Also, this type of research may lead to population-specific treatments. The high cost of drug recalls have provided an initiative for advanced drug design involving drug-target validation studies as well as studies to predict adverse events and lack of efficacy. A sample pharmacogenomic experiment may proceed as follows: Define the drug response (phenotype) of interest Accumulate patients/DNA/families Identify candidate genes that might explain significant response variations Identify polymorphisms in candidate genes Relate the identified polymorphism to the phenotype SNP Diagnostics An individual's genotype can be determined and then analyzed according to a haplotype map to determine the patient's disease risk or reaction to different treatments. SNPs in Functional Proteomics and Gene Therapy SNP-related functional proteomics involve the identification of functional SNPs that modify proteins and the structure and function of protein active sites. Functional proteomics is closely tied to modern (post-genomic) drug design and functional SNP information helps to discover new therapeutic targets. Most interestingly, by developing a database of the modifications generated by functional (coding) SNPs in disease related proteins, 'new compounds can be designed for correcting or enhancing the effects of those mutations in the population.' [Source: Genodyssee] What are these compounds and how can knowledge of SNP effects be used to correct populations with undesirable SNPs or enhance populations by introducing the advantages of a desirable SNP? Aside from drugs, here are some interesting genomic therapies that may become more feasible as SNP information in the form of trees and maps become more detailed. NEO’s SnpScan geotyping Service 1. Flexibility of SNP loci: We can genotype almost all SNPs located in the region which can be successfully PCRed. 2. We provide a high genotyping call rate, so we can promise that the call rate of each locus will be higher than 90%, otherwise, we will not charge you for any costs on the related locus. 3. This low cost benefits all types of customers. We are trying to be the SNP genotyping workshop and provide our customers with the best service with the lowest price. For those customers with small sample sizes (less than 200 total), we will charge $400 for each successful locus. However, for customers with more than 200 samples, we will charge $2 for each successful reaction. Significant discounts will be given to those customers with large sample sizes. 4. Fast turnaround time on orders: Normally, we can give the results back to you within 3 weeks after your samples and SNP information arrive. For urgent needs, we can even provide an expedited turn around time, for an extra charge. 5. Confidentiality: Your information will be kept completely confidential and no information will be sent to a third party without your permission.