- Course overview
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- Why Ensembl?
- What is Ensembl?
- When to use Ensembl
- How to access Ensembl
- How to search Ensembl
- How to search Ensembl
- How to search Ensembl
- Exploring sources of biological data
- Navigating Ensembl
- Customise Ensembl
- Manage your data
- Export data
- Download data with BioMart
- Bulk download genome-wide data files with FTP
- Ensembl tools
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- Guided examples of using Ensembl
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Finding phenotype for a SNP
Scenario
You are working with the sequence variation rs2068824. This is a Single Nucleotide Polymorphism (SNP) located in the NAV1 gene in human. This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system.
Exercise
This sequence variation has turned up in several of your samples in patients with digestive troubles. Use Ensembl to find out if any phenotypes or diseases are known to be associated with this SNP.