Single nucleotide polymorphism SNPs frequency

Recently, the presence of single nucleotide polymorphisms (SNPs) has been reported for several types of transporter. Extensive studies have been performed on the SNPs of OATP2 [100, 101], and the SNPs identified in African- and European-Americans are indicated in Fig. 12.3. Moreover, the frequency of SNPs differed among the African-American, European-Americans and Japanese, indicating the presence of an ethnic difference in the allelic mutation of this transporter [100, 101]. In addition, some of the mutations were associated with reduced transporter function and/or abnormalities in membrane targeting [100, 102] (Fig. 12.3). It is... 

Natural variation in the genes that encode adrenergic receptors (ARs) have been identified. The variations of major interest for common diseases are those that occur with allele frequencies >1% and are termed polymorphisms. Within the coding region, polymorphic variation can result in either a change in the encoded amino acid (nonsynonymous) or, because of the redundancy of the genetic code, have no effect on the encoded residue (synonymous). The most common variants are single nucleotide polymorphisms (SNPs), but insertions and deletions are also found. AR polymorphisms have been considered as poten-... 

Cascorbi I, Gerloff T, Johne A, Meisel C, Hoffmeyer S, et al. 2001. Frequency of single nucleotide polymorphisms (SNPs) in the P-glycoprotein drug transporter... 

Ma et al. [23] have determined the frequency of the single nucleotide polymorphism (SNP) 584C/T, which produces the Thrllllle variant, in 372 members... 

Single nucleotide polymorphisms (SNPs) can be defined as bi-allelic base variants within a population occurring with an allelic frequency higher than 1% (with 1% as a more or less arbitrary threshold). SNPs can be seen as a generalization on single nucleotide polymorphisms, covering also RFLPs. 

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