how to read SNP polymorphism?
1
0
Entering edit mode
5.3 years ago
putty ▴ 40

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

thnx

SNP • 829 views
ADD COMMENT
0
Entering edit mode
5.3 years ago
Ram 44k

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.

ADD COMMENT

Login before adding your answer.

Traffic: 2160 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6