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SNP Genotyping

SNP Genotyping

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.

EpigenDx SNP Genotyping

How It Works

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epigendx_Point Mutation-diagram

Image source: By Jonsta247 CC BY-SA 4.0, via Wikimedia Commons

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.

What Is a Point Mutation?

A point mutation is a change in the DNA sequence that affects only a single nucleotide or a few nucleotides. To put it another way, at least one nucleotide is incorrect and only appear at a single point in the DNA sequence. A nucleotide might be inserted improperly during DNA replication or transcription. These errors can be made by enzymes like DNA polymerase or RNA polymerase.

Our Services

Items Service Products Description Order
8004 SNP Genotyping Analysis – Premium Quantitative SNP Genotyping Analysis on submitted genomic DNA:

  • Perform PCR
  • Perform Pyrosequencing genotyping and allele quantification analysis
Inquiry / Order
8010 SNP Genotyping analysis – Standard Pyrosequencing SNP and mutation analysis on submitted genomic DNA:

  • Perform Pyrosequencing analysis
Inquiry / Order
8006 Assay Design – Standard Design PCR and Pyrosequencing primers for DNA methylation, SNP genotyping, and allele specific expression analysis:

  • Provide in silico designed primer sequencing information
Inquiry / Order
8007 Assay Design – Gold Design PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:

  • Provide in silico designed primer information
  • Perform Pyrosequencing analysis on submitted PCR product
Inquiry / Order
8008 Assay Design – Premium Design and optimize PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:

  • Design PCR and Pyrosequencing primers
  • Develop and optimize PCR condition
  • Develop and optimize Pyrosequencing condition
  • Perform assay validation
Inquiry / Order

Now Offering GLP and GCP Compliant Laboratory Services

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