Challenge questions
The SNP rs601338 controls ’secretor status’ (i.e. whether A/B antigens are secreted into bodily fluids) Individuals with GG or GA genotypes at this SNP are secretors, and individuals with homozygous AA genotypes are non-secretors - as described in this paper based on the ALSPAC cohort.
Can you solve?
Use the UCSC genome browser and Ensembl, and your gene annotation file, to solve:
Use the genome browser to find out where rs601338 in the gene. (NB. use GRCh38 assembly coordinates for this.)
Does this agree with the gene annotation file? Which exon of FUT2 is the SNP in?
Using the genome browser, can you figure out what amino acid change rs601338 makes to the encoded protein?
Using the Ensembl site, can you find an individual from the 1000 Genomes Project data with the secretor genotype? And an individual with non-secretor genotype?