Scientific Overview
A single-nucleotide polymorphism (SNP) is sequence variation at the single-base level. They can be found in coding, non-coding, and intronic regions of genomes, and they may affect transcription factor binding, gene splicing, protein folding, and many other elements at the gene and transcript level.
SNP variations in the human genome are believed to be associated with diseases and malignancies. Many linkage and association studies have been performed to connect allelic variation to diseases. There are currently more than 50+ million SNPs listed by dbSNP (NCBI) in the human genome, trending 2-3 million new discoveries every year.
Application
Point Mutation Analysis
Pyrosequencing technology is ideal for gene-specific SNP genotyping and allele quantification, because it offers the advantage of built-in quality controls with every reaction. It is capable of detecting mutations with di-, tri-, and tetra-allelic polymorphisms, along with single-base insertions and deletions. This service is best for analyzing multiple SNPs located in a mutation “hot spot” region.
Our Services
Items | Service Products | Description | Order |
---|---|---|---|
8004 | SNP Genotyping Analysis – Premium | Quantitative SNP Genotyping Analysis on submitted genomic DNA:
|
Inquiry / Order |
8010 | SNP Genotyping analysis – Standard | Pyrosequencing SNP and mutation analysis on submitted genomic DNA:
|
Inquiry / Order |
8006 | Assay Design – Standard | Design PCR and Pyrosequencing primers for DNA methylation, SNP genotyping, and allele specific expression analysis:
|
Inquiry / Order |
8007 | Assay Design – Gold | Design PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:
|
Inquiry / Order |
8008 | Assay Design – Premium | Design and optimize PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:
|
Inquiry / Order |