Someone asked me for what genomic change (position:ref>alt) this variant is referring to, embarrassingly I am having a hard time:
What I was given Given:
UGT1A9 766G>A (D256N)
I think 766G>A is referring to a CDS change (from coding sequence), or the the portion of a gene's DNA or RNA that codes for protein.
Working backwards from CCDS if I change the 766th nucleotide under "Nucleotide Sequence" (which is a G) to and A, this results in a protein sequence change D256N, so I then BLAT the 766 nucleotide string to find this G sits on the + strand at 2:233672700.
So I think the change in chrom:pos:ref>alt on build 38 , where ref allele refers to the reference allele on the forward strand is 2:233672700:G>A or rs58597806
- Does it seem right?
- IIs there a better way to do this?