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Exact(6)
For example, assuming that T j controls T i, there may be a functional polymorphism in gene j's sequence, but no observed variation in expression level, T j.
Our results suggest that the -271 G>A polymorphism of the KDR gene may be a functional polymorphism associated with the regulation of KDR transcription.
Since the A1 allele is not thought to be a functional polymorphism in the dopamine system (elaborated in the methods section), varying genetic background (i.e. different patterns of linkage with actual functional genetic polymorphisms) could explain varying results across populations.
This study is the first to show that the -271 G>A polymorphism of the KDR gene may be a functional polymorphism related to the regulation of gene transcription.
The estimated allelic effects of SNP41 on α-cellulose corresponded well with estimates of transcript levels, i.e., heterozygotes (CT) had both higher average α-cellulose content and higher transcript levels than the homozygotes (CC and TT), suggesting that SNP41 may be a functional polymorphism affecting the regulation of gene expression.
We also observed a significant association between SNP49 and α-cellulose in the linkage population with the same genotypic effect for this locus in association populations (Table 5 and Figure 4), suggesting that SNP49 may be a functional polymorphism that is in or near a locus involved in the control of α-cellulose content.
Similar(54)
Moreover, unlike many polymorphisms, the ACTN3 R577X polymorphism is a functional polymorphism, with the XX genotype resulting in complete loss of function.
MMP1-1607 (1G/2G) is a functional polymorphism, as it alters MMP-1 expression.
The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10 -11 10 -11 ratioddsratio1.32), with the A allele (cORing for histadine) conferring elevated disease risk.
Compared to other possible choices, this is a functional polymorphism which means it has a well documented impact on physiological processes, and in particular the enzyme activity of COMT.
The UCP2 G -866 A polymorphism is a functional polymorphism located in the promoter reG -866 Athe gene.
More suggestions(15)
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