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User Question 1: Find SNPs for a gene

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Sample User Question: back to top

Mutations on BRCA1 gene have been reported to be associated with the early onset of breast cancer. Retrieve all non-synonymous and validated coding refSNPs for human BRCA1 from dbSNP.

Flow Chart back to top

  1. dbSNP - Search dbSNP to find SNP records for a gene

Step By Step Guide back to top

  1. dbSNP
    • Enter "BRCA1 [Gene Name]" in the search box
    • Click on "Limits"
    • Go to "Function class" and select "coding nonsynonymous"
    • Go to "Organism(s)" and select "Homo Sapiens"
    • Go to "Validation" and select all options except "no info"
    • Click on "Details" and review "Query Translation"
    • Click on "GO"


Genetic Variation Return to Slides (*.html or *.mht format -- slide 25)
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