I am trying to relate some SNPs to diseases and found these on the databases:
NM_.......3:c.640A>G (Arg214Gly)
NM_......2:c.-379A>G
NM_.......3:c.-458+5111C>T
NM_......2:c.364-47G>C
NM_......3:c.-334-8904T>C
NM_......2:c.*188T>C
NM_......3:c.-458+4792A>C
NM_.....2:c.*253+124G>C
NM_......3:c.-457-6447C>A
NM_.....2:c.249+948A>C
(I replaced some numbers with "......" for confidentiality purpose)
I want to find the nucleotide position and relate these to the clinical significance or diseases relevance. MY confusion are minus, asteric, plus and the numbers that follow the signs. And even some of the positions (e.g 214 ), when divided by 3 the result is odd number which make it difficult to determine the position of nucleotide.
Could someone avail me the way to do these.
Thank you all for the anticipated responses
the attached paper may be of interest
The numbers are exact positions of the bases within the gene and are not related to the frame of the codon triplets....any base position may be changed in both coding and non coding sequences
hi Ismaila,
when there is just a number then the base is in a coding region and if you divide by 3 then the number you get is the amino acid from the translated cdna. When you have a plus or minus then the change is in an intron and a plus means count that many bases from the end of the last exon for the position of your base and a minus means count backwards from the next exon of your gene to find your base. In both these situations the change is in an intron so in a non coding region so no amino acid is involved as these are not translated so no change will be reported...it is just a non coding SNP
best wishes
Paul
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