Depending on their position and flanking sequence in a gene, SNPs may have varied functional effects on protein sequence, transcriptional regulation, RNA splicing or miRNA binding. There are a variety of in silico tools available for prediction of such functional regions within genes, and we use these tools to help identify SNPs that are more likely to affect biological function. In doing so we examine not only whether a SNP occurs within a likely functional region, but also whether the alternative alleles are likely to have differential functional effects.
