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Obviously, I barely know what I am talking about.

But I want to find the "MUC5B promoter polymorphism rs35705950" in my RAW genetic data from 23andMe. (see this paper http://www.ncbi.nlm.nih.gov/pubmed/23695349)

I think rs35705950 is the SNP number... When I search I get no results.

When I search for MUC5B I get 9 results, but the SNP numbers doesn't match.

My question(s)

Is it possible that I just don't have this gene (rs35705950)?

Does 23andMe not have ALL of my genetic information?

Am I doing something wrong or misunderstanding what I am looking for?

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Let's set things straight. The genomes of humans are highly similar and in general everyone shares the same genes. SNPs, or Single Nucleotide Polymorphisms, are single basepair positions in the genome in which there tend to be differences between people. This means, that instead of measuring the whole genome sequence for a person, which is very expensive and difficult, we can just examine a subset of the genome (the SNP positions) and capture most of the unique characteristics of that genome.

23andMe do exactly that. They measure a large set of SNPs (but not all of them), and thus give you some useful information about your unique DNA sequence. So you would need to look in the output given to you by 23andMe and see if they measure the SNP in question (rs35705950).

What do SNPs have to do with genes then? Well, if one of these SNPs occurs inside a gene, it could affect the gene, for example by producing a slightly different protein that could lead to some phenotype. So, studies link SNPs to different phenotypes such as disease or hair color. Usually the link is not one-to-one, but given as a probability.

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  • $\begingroup$ In short, rs35705950 is not a gene, but rather a SNP, a SNP that occurs within the gene MUC5B. 23andMe measures a selected subset of human SNPs, less than 0.1% of the genome. $\endgroup$ – mgkrebbs Nov 21 '14 at 22:11
  • $\begingroup$ So I suppose 23andMe does not have the data for this SNP, given that I cannot find it in the RAW data search. Are there other services that would sequence your entire genome or a given SNP? $\endgroup$ – Jason Nov 22 '14 at 19:17
  • $\begingroup$ Sequencing your whole genome would be thousands, if not ten thousand dollars. That's not what you want. There is a Taqman assay designed for it, which is good, but I don't know how you would find a commercial lab to run the assay for you. $\endgroup$ – swbarnes2 Nov 23 '14 at 4:16
  • $\begingroup$ @Blankasaurus checking a specific SNP would be trivial for a molecular biologist, this is the type of thing you do in an undergrad molecular biology lab course. I am pretty sure you could pay some company to do this as well. Basically you can take some saliva, extract DNA, and use PCR (Polymerase Chain Reaction) to amplify the region of interest, and then sequence it using Sanger sequencing. $\endgroup$ – Bitwise Nov 24 '14 at 14:52

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