Exact(6)
A silent intragenic polymorphism (1359 G/A) of the cannabinoid receptor 1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr) was reported as a common polymorphism in Caucasian populations.
R202Q has previously been reported as a common polymorphism [44].
The only variant identified that was not listed in dbSNP as a common polymorphism was IVS7delT.
In order to exclude the occurrence of the new PAX8 genetic variant as a common polymorphism, 115 healthy Caucasian European subjects have been screened for the same substitution.
MLH1 655 A>G (I219V) has been reported as a common polymorphism in Western populations, with a G allele frequency of more than 30% [ 11, 20, 21].
Interestingly, the DEF cluster region was identified as the distal breakpoint (REPD) of a 4.7-Mb segment inversion, identified as a common polymorphism with frequencies of 39%and26%6% in the Japanese population and in Europeans, respectively [ 16- 18].
Similar(54)
A total of 14 (9.2%) different variations were detected, eight (5.3%) have been reported as known polymorphisms, including a common polymorphism at codon 787 (rs1050171, c.2361 G>A), occurring with a global allelic frequency of 0.417.
A common polymorphism rs7493, also known as Ser311Cys, a missense SNP in PON2, has also been associated with the risk of CAD [ 59].
They may also be "tagging" another polymorphism, but if so, this is unlikely to be a common polymorphism in exon 2 as sequencing in 150 ADHD male probands and nearly 100 controls did not reveal any new mutations.
The tumor suppressor gene presents a common polymorphism at codon 72, encoding proline or arginine.
The patient carrying the F1473C mutation was also found to carry a common polymorphism KCNH2 (K897T) [37] [40].
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