[ensembl-dev] 1000 Genome snp sets in Ensembl 61

[Will McLaren]

Hello,

On 10 March 2011 10:34, Tjaart de Beer <tjaart at ebi.ac.uk> wrote:
> Hi all
>
> I am currently trying to look at the 1000 Genome nsSNPs found in Ensembl.
> I have a few questions:
>
> 1. If a nsSNP was found in the 1000 Genome project but it already had a
> dbSNP id, would this be part of one of the 1000 Genome sets in Ensembl? Or
> would it be ignored? Or alternatively, does the 1000 Genome sets found in
> Ensembl only include the novel nsSNPs found?

All 1000 genomes SNPs, regardless of whether they are novel or already
existed in dbSNP are in the 1000 genome sets.

>
> 2. Is the amino acid position reported for a nsSNP the position as found
> in the reference protein sequence? Or just for that specific transcript?

The position is just for that specific transcript.

Cheers

Will

>
> Thanks!
> Tjaart
>
>
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