Introduction to methods for finding SNP information

There are several SNP naming methods:

1. GenBank official refSNP ID single nucleotide polymorphism nomenclature

The official refSNP ID single nucleotide polymorphism nomenclature of GenBank is a relatively complete naming system, and the naming method is rs+7 Arabic numerals. If the refSNP ID of a SNP is known, then the relevant information and location in the genome can be found in the SNP database of GenBank. For example, if I search rs776746, you will find that CYP3A5 and RS776746 are one thing.

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2. Add location information between the mutation information:

It is divided into three ways:

The location of the +cDNA between the mutation information, such as C188T;

Add the location of the DNA between the mutation information, such as A2546G;

Add amino acid positions between the mutated amino acid information, such as Glu145Lys.


3. Customary names for customary names or frequency sequences:

Commonly used in the literature, the common way of labeling alleles, such as CYP2D6*10, CYP2C9*3, etc., there are some m added before, indicating mutations, such as CYP2C19m2, etc., and some can also be in the literature. See, such as CYP2E1 C1> C2 mutations, etc., in short, the form of flowers bloom, hundreds of schools contend, making people dizzy. In fact, this is a very irregular method of labeling the SNP position with HGVS Names. Obviously, due to the lack of the acceptance number of the reference nucleic acid sequence, the reader cannot find the corresponding information in GenBank from such a representation. This is a legacy of history, and the responsibility cannot be completely blamed for the author of the original.


4, HGVS nomenclature:

HGVS is the abbreviation of Human Genome VariationSociety. It is a non-governmental folk academic organization whose website is http:// The rule of the HGVS nomenclature SNP method is to indicate the referenced nucleic acid sequence number (Reference Sequence, RefSeq) and the position of the SNP in the nucleic acid sequence, for example: NG_000004.3: g.247167G>A, wherein the red part is the nucleic acid sequence accept The green part is the position of the single nucleotide polymorphism site in the nucleic acid sequence, and G>A indicates that the original base is G and the mutant base is A. Such a naming method facilitates finding the location in the gene sequence in which it is located.



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