In the genotyping assay you designed in exercise 4, assume you have a sample that is A/G heterozygous and you are doing a digest with the enzyme you selected. How many fragments would you see on the gel?

Use the enzyme you found for exercise 4 and perform a custom digest on NEBcutter. How many fragments are produced by the restriction enzyme if the enzyme cuts?

Consider the enzyme you selected for exercise 4. The enzyme only cuts when R is a/an ... ?

Consider the enzyme you selected for exercise 4. What is the recognition sequence of the enzyme?

Consider the sequence given in question 4 of your exercises. Use the NEBcutter tool to find a restriction enzyme that specifically recognizes a sequence containing the SNP “R”. Which enzyme cuts the sequence only once and includes the SNP in its recognition sequence?

What is the amplicon length of the SNP you obtained the flanking region from excerise 3

What type of polymorphism do you find when searching for rs2293152 in the dbSNP database?

If you search for the polymorphism rs869312894 and check the clinical variation (ClinVar) – Can you find a change in amino acid?

You want to search for pathogenic polymorphisms in the human STAT3 gene. Which type of filter are you using?

To retrieve flanking regions of SNPs you can use the following database: