Module 32: Gene Variations and Single Nucleotide Polymorphism
  Lecture 32:
 

Table 1: Few Gene, Genename, corresponding SNPs and their class.

Gene
Gene Name
SNP
SNP Class
APOE
Apolipoprotein E
rs4966978
NonSyn intron
USF1
Upstream transcription factor 1
Haplotype across USF1
NA
GATA2
GATA binding Protein 2
rs2713604
5'UTR
LTA4H
Leucotreine A4 hydrolase
Haplotype K
NA
PSMA6
Proteasome subunit alpha 6
rs3850641
Intron
GJA4
Gap junction alpha 1
rs1764391
NonSyn intron

Types of SNPs

Non-coding SNPs: They can be 5'-UTR (Untranslated Regions), 3'-UTR, introns, intergenic regions and pseudogenes occurring in the genome. The regulation machinery of these non-coding SNPs includes splicing, transcriptional regulation and translational regulation.

Coding SNPs: These types of SNPs are also called as synonymous SNPs (due to third position variation). Other coding SNPs are replacement SNPs which cause change in amino acid, therefore categorized again in two types: 1) Functional SNPs (acceptable amino acid replacement) and 2) Non-functional SNPs (traits & diseases)

Methods of analysis of SNPs

Analytical methods to discover novel SNPs and detect known SNPs include