I am new to the filed of polymorphic studies. While reading one article i found a table denoting different SNPs and Variants. What actually a variant means? For example, in the table variant is given as, c.868+25A>G. What does this means?
The c means coding region,
868, because of the way it's written, probably is the last position of an EXON
+25 is 25 bases AFTER that position used as a reference (868 in this case).
Basically this kind of nomenclature is used instead of genomic position (like A4565758T) so you can get a position of an intron, intergenic region or UTR region
Att
Livia
Dear Pramod,
Please read the "Recommendations for the description of sequence variants" here: http://www.hgvs.org/mutnomen/recs.html for a comprehensive explanation. You can use it as a reference material any time.
Good luck!
Rolando
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