This tutorial demonstrates how to submit a query about a specific variant to Polymorphism Phenotyping v2 (PolyPhen-2) using a SNP identifier from the Single Nucleotide Polymorphism Database (dbSNP). Queries submitted with a SNP identifier do not need to include any additional information.
Want to practice applying this information? Check out the activities in our Sequence Comparison & Identity module on our website: https://www.jax.org/education-and-learning/high-school-students-and-undergraduates/teaching-the-genome-generation/stem-learning-resources?eduTopic=dff8d5d3-7b45-4af1-b0df-504053d7eef6
Or on LabXchange: https://www.labxchange.org/library/pathway/lx-pathway:430d9cc3-22f1-426c-885f-82119f469e64
PolyPhen-2: http://genetics.bwh.harvard.edu/pph2/
PolyPhen-2 Tutorial Series Playlist: https://www.youtube.com/playlist?list=PLWNp6Z5dXDZ61kvBXYlr60B6deiAVy-tj
Genomic Education at The Jackson Laboratory: https://www.jax.org/education-and-learning
Genetics Learning Resources from The Jackson Laboratory: https://www.jax.org/stem-resources
Key moments:
0:00 Introduction
0:20 Entering a SNP identifier
1:51 Entering a query description
2:15 Submitting the query
2:30 Conclusion
Keywords:
PolyPhen-2, SNP, dbSNP, variant effect prediction
