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Genetic variation can affect the levels of protein; consider a variant that reduces the amount of mRNA transcribed, this could have a profound effect on the amount of mRNA available to translate into a protein. Consider another variant that does not affect the abundance of the mRNA transcribed, but alters one of the many important sequences that are ...


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You take a list of SNPs and a list of gene expression values and you plug it into something like this: http://www.bios.unc.edu/research/genomic_software/Matrix_eQTL/ So, how can it be possible that one gene (let say GENE22, location: 10-100) is mapped to eQTL(SNP within GENE22, location: 12) in one dietary condition but is not mapped to eQTL in another ...


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Well, though it is possible to have SNPs of more than two alleles, and some exist, due to the low probability of having a basepair change twice in the same base-pair (there are aproximately 3.000 Mb in the human genome) and have it in more than 1% of the population (remember we are talking about single nucleotide polymorphism) to classify as a polymorphism ...


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Just to make this post a tiny bit more useful, I must add that there are several additional sources I've found: UniProt has an open dataset called humsavar ClinVar database HGMD database OMIM A paper with a manually collected database based on recent publications in Nature Genetics. Different datasets intersect to some extent, but all in all you get ...



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