how to read SNP polymorphism?

Question

[putty]

could someone explain what this means -634G>C rs2010963 ? I understand rs refers to reference SNP cluster id but what does -634 mean ?

thnx

Answer 1

[Ram]

I think part of the HGVS representation is missing, and I can guess the missing part is a c. in the beginning, which would indicate a G>C change 634 bases upstream of the transcription start site.

dbSNP's entry for rs2010963 gives the complete HGVS representation as the following:

CM000668.2:g.43770613C>G
NC_000006.11:g.43738350C>G
NC_000006.12:g.43770613C>G
NG_008732.1:g.5398C>G
NM_001025366.2:c.-94C>G
NM_001025367.2:c.-94C>G
NM_001025368.2:c.-94C>G
NM_001025369.2:c.-94C>G
NM_001025370.2:c.-94C>G
NM_001033756.2:c.-94C>G
NM_001171622.1:c.-94C>G
NM_001171623.1:c.-634C>G
NM_001171624.1:c.-634C>G
NM_001171625.1:c.-634C>G
NM_001171626.1:c.-634C>G
NM_001171627.1:c.-634C>G
NM_001171628.1:c.-634C>G
NM_001171629.1:c.-634C>G
NM_001171630.1:c.-634C>G
NM_001204384.1:c.-634C>G
NM_001204385.1:c.-94C>G
NM_001287044.1:c.-1507C>G
NM_001317010.1:c.-634C>G
NM_003376.5:c.-94C>G

As you can see, there are a bunch of mRNA sequences with this mutation at their -634 position.