Bio-computational analysis of human genomic variation in KCNH2 gene in chromosome 7

Abstract

SNP, otherwise known as Single Nucleotide Polymorphism is the single nucleotide substitution of one base for another in the genetic sequence of individuals. Polymorphisms are related to traits specific to a particular ethnicity or population.

Genetic Mutations, are a kind of genetic polymorphism, which is a difference in the genetic DNA sequence amongst individuals. Genetic mutations are more commonly associated with diseases. Hence, studies of SNPs is crucial in the study of health as they are able to predict an individual’s vulnerability to diseases.

KCNH2 is the gene that codes for the voltage-gated potassium channels. Variations along this gene are the cause of numerous cardiac disorders. SNPs in this gene is useful in evaluating risks in other heart-related syndromes. [2nd Award]