While it is true that there are some useful websites like SNPedia, or NCBI that can help you find rs codes for genetic variants, sometimes you need that info coming straight from the oven – particularly when you want to look at atypic SNPs or substitutions that have not been validated.
So, in this post I give you some simple tips to obtain this precious information using a database called SNPper , which was developed by a scientist at the University of Florida (you can find an entire set of useful Bioinformatics tools of Computational Health Informatics Programs on the university’s website—note that not all were developed at the university).
retrieve known SNPs by position or by association with a gene
save, filter, analyze, display or export SNP sets
explore known genes using names or chromosome positions
To access SNPper, you can enter with a guest access, or you can log on and generate a password through a free registration.
Using SNPper: step by step
Let’s go through an analysis using the substitution Arg160Trp in MC1R. This has been published in an association study, and already has an rs in WiKi, but it is just an example.
Go to the section of “Gene Finder”, and write the name of your gene of interest, in the search field called “Symbol”. For us, the gene MC1R.
2. In the “Gene View” section, you should find the complete description of the gene. Take a look at the list of sequences. We are interested in the “Annotated” sequence format since it shows the genetic variants present on this gene, so let’s click on it!
3. As you can see, there are a lot of SNPs listed for this gene! The default shows the nucleotide sequence view, but if you click in the “View of Amino Acid Sequence” in “Command” section, you can access the nucleotide sequence by triplets showing the SNPs, and below, their corresponding amino acid sequence with respective substitutions.
4. To look for our substitution (Arg160Trp), count until you reach the triplet 160. This is made easy by the fact that the numbers are signposted in each line. Check that 160 corresponds to an amino acid substitution of arginine to tryptophan, which belongs to a C/T SNP. Look at the right side where the the rs codes for each substitution are listed and find rs 1805007… Eureka!
In addition, this website allows you to explore SNPs by their position or cytogenetic band when you enter in the SNP finder section, link to other bioinformatics websites like USC Genome Bioinformatics, as well as has tools that are useful in primer design for SNPs analyses, plots. You even you can add you own SNP to their database.
So, I hope you enjoy this website it is as helpful to you as it was for me during my PhD!
Photo courtesy of Phyllis Buchanan
The whole TLC technique sounds easy to do, but it can be difficult and tricky during interpretation or give unexpected results, especially when working with biomolecules. For this reason, it is important to be familiar with troubleshooting thin layer chromatography. Some of the common problems faced during TLC and their solutions are listed below: Solvent…
After ten years of postdoctoral research there is one important piece of advice I would give to anyone embarking on a research career: Spend as much time managing your data as you do generating it Take time at the beginning of each project to organize how you will record what you are doing day-to-day. The…
Every biochemist is familiar with proteases. More often than not, proteases cause a lot of anxiety. To this end, a lot of research has been done in developing techniques to prevent the activity of proteases. But some of these proteases can be the good guys too! For example, you can use them to separate your…
You don’t need to be told about how next generation sequencing technologies have revolutionized the way we study the genome and the epigenome. Whether you want to look at transcription (RNA-seq), translation (Ribo-seq) genomes (DNA-seq), interactions of proteins and DNA (ChIP-Seq) or to study epigenetic features such as methylation (whole genome bilsulfite sequencing) there are…