Hello dear,

Actually i wanna know about database by which i can find the changed amino acid name & position through above reference SNP.

So, please guide me.

Harishankar,

Your first stop should be dbSNP at the NCBI. This is the organisation that assigns the 'rs' SNP identifiers

http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244169

This page doesn't give an amino acid change for this particular SNP, so I would then check it's location in the UCSC genome viewer (the hg19/GrCh37.13 version of the genome is still the most useful to use, even though it's not the most recent). The location is chr11:57359802

This shows the SNP to be about halfway between the genes UBE2L6 and SERPING1, therefore it does not change any protein sequence. If this is truly linked to disease it must be via a regulatory function, or is possibly in linkage disequilibrium with a different functional variant.

Hi,

Mutalyzer is a good tool for checking mutation/variant nomenclature.

https://mutalyzer.nl/snp-converter

Thank you all for  giving satisfactory answer.

Thank you once again.