Exact(6)
These two SNPs (rs4334545 and rs6090453) are both in intron areas of the NTSR1 gene, which may or may not have functional consequence on the protein.
Several different non-B DNA forms have been reported to have functional consequence; these include cruciforms, triplexes, slipped structures, G-quadruplex, left-handed Z DNA and bent DNA [3] [5].
Neither of these mutations have functional consequence.
This mutation is also not likely to have functional consequence [ 23].
Even though most of the SNPs are of no biological significance or meaning, a fraction of the substitutions have functional consequence and these variations are the basis for the diversity found among humans [ 3].
To investigate if common variants of CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1 and CYP19A1 influence CRC risk we genotyped 2,575 CRC cases and 2,707 controls for 20 single nucleotide polymorphisms (SNPs) that have not previously been shown to have functional consequence within these genes.
Similar(53)
"Our work reveals that structural variations are often likely to have functional consequences.
A major motivation for complete sequencing of genomes is to identify variants that are likely to have functional consequences based on their annotation.
These differences in glycosylation are likely to be the result of post-translational processing and may also have functional consequences.
These frequent DDR gene alterations in many human cancers have functional consequences that may determine cancer progression and guide therapy.
For HIV-1, GWAS demonstrate that some naturally selected variants in the host-pathogen protein interaction networks continue to have functional consequences for susceptibility to these pathogens.
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