Question: Finding homozygotes with SNP of interest
0
gravatar for andrey.v.shubin
3.5 years ago by
andrey.v.shubin60 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 • 740 views
ADD COMMENTlink modified 3.5 years ago by Emily_Ensembl21k • written 3.5 years ago by andrey.v.shubin60
3
gravatar for WouterDeCoster
3.5 years ago by
Belgium
WouterDeCoster44k wrote:

Your best resources for that would be ExAC and gnomAD.

ADD COMMENTlink written 3.5 years ago by WouterDeCoster44k
1

Thank you, I have found exactly what I need.

ADD REPLYlink written 3.5 years ago by andrey.v.shubin60
1
gravatar for Emily_Ensembl
3.5 years ago by
Emily_Ensembl21k
EMBL-EBI
Emily_Ensembl21k 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 3.5 years ago by Emily_Ensembl21k
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