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:

Multiple Choice

Which nucleotide position did you find for human KRAS in ENSEMBL and how is the gene positioned on the Chromosome?

How many exons did you find for the human KRAS gene (splice variant KRAS-201) in the ENSEMBL genome browser?

How many splice variants did you detect for the human KRAS gene in your ENSEMBL search?

How is Alkaptonuria (AKU) inherited?