i wnat to understand all the information about this SNP (C667T= c665t=rs1801133). i found several names for this polymorphism. i want to know the cause of choosing the number 667 or 665. i think it is the number of the substitute nucleatide iN mRNA but when i ACCESS TO mRNA for this gene (MTHFR) i can't find neither C nor T IN BOTH 665 or 667
Hi
The SNP is in DNA sequence and position given is for DNA not the mRNA if you want to check in mRNA than check position for mRNA in dbSNP also it is on reverse strand. Also you cannot find T in mRNA sequence and as C allele is the wild type so in database you will find only C. You can also see the annotated sequence to see the position of your SNP. I hope this information will help you
It was first published 1995 by Frosst et al in Nature Genetics (10(1):111-3) and they gave the SNP this position according to the cDNA which they had cloned.
You can find several more numbers for this SNP, see
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?searchType=adhoc_search&type=rs&rs=rs1801133
It always depends on the source of the sequence. The initial gene bank accession number was UO9806. At that time we repeated their analysis in a German cohort but we were not able to publish the negative association.
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