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...find the Single Nucleotide Polymorphisms (SNPs) for a gene of interest?

Question

Mutations in BRCA1 gene have been reported to be associated with the early onset of breast cancer. Retrieve all non-synonymous and validated coding SNPs for human BRCA1 using the Entrez SNP database from NCBI. (SNP = single nucleotide polymorphism)

Steps
Things to do
1
POINT your browser to the NCBI Entrez SNP Web page.
2
TYPE ìBRCA1[gene name]î in the text search box at the top of the page.
3

Under the text search box, you will find multiple tabs, such as Limits, Preview/Index, History, etc. CLICK the Limits tab.



4



NARROW your search by selecting criteria from several categories such as Function Class, Chromosomes, Organism, etc.
  • from Function Class SELECT ìcoding nonsynonymousî
  • from Organism SELECT ìhomo sapiensî
  • from Validation Status SELECT everything EXCEPT ìno-info"
5
CLICK the GO button next to the text search box at the top of the page.




Result
  • A number of SNPs meeting the search criteria (Limits: coding nonsynonymous, homo sapiens, by cluster, by frequency, by submitter, by 2hit-2allele) will appear in the result page.
  • The default display format is ìGraphic Summary.î From the Display dropdown menu located underneath the Limits tab, you can CHANGE THE DISPLAY FORMAT by selecting other options, such as FASTA (for displaying upstream and downstream sequences surrounding each SNP), Flat File, UI list, etc.
  • SAVE this result by selecting the File option available under the Send to dropdown menu located near the Display menu.

Keywords


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