Question: Finding homozygotes with SNP of interest
0
gravatar for andrey.v.shubin
23 months ago by
andrey.v.shubin50 wrote:

Hello,

I am a very new person in genetic variation analysis, so my question may be very simple.

I am interested in the SNP rs764867354 in SidT2 gene that leads to loss of a start codon. (http://www.ensembl.org/Homo_sapiens/Variation/Explore?db=core;g=ENSG00000149577;r=11:117178733-117197445;v=rs764867354;vdb=variation;vf=130560261). I want to know if homozygotes for this SNP have been ever found among the sequenced genomes. What should I do to find this out?

Thanks!

snp homozygote ensembl • 484 views
ADD COMMENTlink modified 23 months ago by Emily_Ensembl18k • written 23 months ago by andrey.v.shubin50
3
gravatar for WouterDeCoster
23 months ago by
Belgium
WouterDeCoster38k wrote:

Your best resources for that would be ExAC and gnomAD.

ADD COMMENTlink written 23 months ago by WouterDeCoster38k
1

Thank you, I have found exactly what I need.

ADD REPLYlink written 23 months ago by andrey.v.shubin50
1
gravatar for Emily_Ensembl
23 months ago by
Emily_Ensembl18k
EMBL-EBI
Emily_Ensembl18k wrote:

Go to the population genetics page which will display genotype frequencies if these are available. If they're not, then click through to the original submitter and see if they have more information.

ADD COMMENTlink written 23 months ago by Emily_Ensembl18k
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