Snp Analysis In Ref Sequence

Question

[Elena]

Dear Friends,

I ve found out the SNPs which are resposible for causing the disease. Now i ve to check whether these SNPs(which i ve found out through literature search) is present in my sequence or not.

for eg: rs6094752 is one of the SNP in the gene NCOA3 causing Breast cancer(which i ve found out through literature search)

and i have a reference sequence of human NM_001174087.

now i have to check whether rs6094752 is present in NM_001174087 or not? this is my question. How can i find it

Answer 1

[Pierre Lindenbaum]

Am I missing something ?

you'll find this information by just looking at the page for rs6094752 ( protein)

[Cynthia]

Ya sir i ve got it. Thanku

[Cynthia]

Thanku Pierre. I ve got another doubt, if the same SNP i need to find in other organism?

like rs6094752 in XR_024896.1(Pan troglodytes)?

[Elena]

Thankyou Pierre for clearing my silly doubt. got one more doubt if i need to find out the same SNP i.e. rs6094752 in other primates like in XR_024896.1( Pan troglodytes)

[Pierre Lindenbaum]

See this question

[Elena]

I've checked the SNP in that particular reference sequence. for eg: rs6094752 in NM_001174087. and the result is NM_001174087.1:c.652C>T, but when i saw the residue number in the reference sequence, according to the result the residue should be T, but instead of T, G is present. How can I interpret the result? Kindly help