Hi,
I am trying to find homozygous mutant DNA for CYP2D6*6. SNPedia, ARUP, and the literature says this SNP is a T deletion at nucleotide number 1707 (according to M33388 sequence). When I go onto 1000 Genome Browser and look up the RS number (rs5030655) I can find the SNP, but it is labeled CA|CA for nearly all individuals listed in the database. Does that mean those individuals have the CYP2D6*6 SNP or not?
Any ideas about where to find some mutant CYP2D6*6 DNA?
Thank you!
The codon for Trp(W) is TGG. However, the gene is coded on the reverse strand but the SNP info from the 1000 genome browser is using the inverse of the codon, "CCA" (CA|CA) from the positive strand as convention. A loss of a "T" from "TGG" or the "A" from "CCA" would leave you with just C from the positive strand. So CA|CA means they have the more common variant at that position and just a C|C means homozygous SNP resulting in p.Trp152Glyfs*2
I have a screenshot I could send you if you shoot me an e-mail. It might be easier to see than my attempt to write it out.
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