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What is the significance of rs2519093(c/t)?

Tok a dna test and found an snp with 0% hapmap frequency in the abo gene.

Trough the recource-section on this page (https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs2519093) I am linked to this site: https://www.ncbi.nlm.nih.gov/nuccore/AL158826

Here it says that the snp codes for "ABO blood group (transferase A alpha 1-3-N-acetylgalactosaminyltransferase; transferase B alpha 1-3-galactosyltransferase) pseudogene ABO-*O02 allele". Was wondering if this ment it codes for a cis-ab-like phenotype?

Thanks

snp abo
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written by mmyskja2 • mmyskja2

A few things:

  1. A SNP does not code for anything. Genes code for proteins or are templates for non-coding RNA. SNPs can be located in genes or regulatory elements. SNPs, as the name suggests (single nucleotide polymorphisms) are simply the exchange of a single nucleotide.
  2. The SNP is located in the intron of APO, so a non-coding part (maybe regulatory) part of the gene.
  3. The 1000Genomes MAF for the SNP is 14%, so a quiet common mutation.

That having said, I wonder what your actual question is. Please reformat your post, putting effort into removing the typos (there are quiet many), and pointing out what the actual scientific question is. This makes it easier to help you.

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written by ATpoint ATpoint

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