A single-nucleotide polymorphism (SNP's, so pronounced snips) is a DNA sequence variation occurs where a single nucleotide A, T, C, or G in the genome differs between members of a biological species or paired chromosomes in an individual.genes are interconnected via a variety of gene interactions. Single nucleotide polymorphisms are frequently associated with human phenotypes, and SNPs in different genes that are strongly correlated with each other may be important for gene interactions. Therefore, exploring the linkages between SNPs may offer new insights into the biological interactions in the human molecular system.For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles: C and T. Almost all common SNPs have only two alleles. Within a population, SNPs can be assigned a minor allele frequency the lowest allele frequency at a locus that is observed in a particular population. This is simply the lesser of the two allele frequencies for single-nucleotide polymorphisms. There are variations between human populations, so a SNP allele that is common in one geographical or ethnic group may be much rarer in another .Unlike non-synonymous, here we're describing and characterizing the Synonymous SNPs in Human.


PHOTOS FOR SYNONYMOUS SNP

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   Recently Genome Wide Association Studies have been successfully brought most of the genetic variations in the human genome which are eventually related with complex diseases and traits. But GWAS has left the functional consequences of the genetic variants look alike and many yet to be annotated. Since the initial sequencing of the human genome and many other projects are underway to understand the effects of genetic variation and phenotypic changes between individuals. Predicting and understanding the downstream effects of genetic variation using computational methods are becoming increasingly important for single nucleotide polymorphism (SNP) selection in genetics studies and understanding the molecular basis of disease. Single nucleotide polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. However, the accumulated sequence information on allelic variation is not matched by an understanding of the effect of SNPs on the functional attributes or molecular phenotype of a protein. According to the NIH, there are now more than four million validated SNPs in the human genome. The volume of known genetic variations lends itself well to an informatics approach. Bioinformaticians have become very good at functional inference methods derived from functional and structural genomics. Examination of synonymous SNPs that change a rarely used codon in to a frequently used one or vice versa may help in predicting their phenotypic effect on the individual carrying the change.

chrom. no. variation id ensembl id variant allele conseq type
1 rs1250 ENST00000001146 A/T synonymous
1 rs1265 ENSG00000007001 G/C synonymous
1 rs1323 ENST00000001146 A/C synonymous