An exonic polymorphism in the human glucose phosphate isomerase (GPI) gene.
A polymorphic site has been found in the human glucose phosphate isomerase (GPI) gene. This site is produced by a A-->G substitution at nt 489 of GPI cDNA, resulting in a silent mutation. To our knowledge, it is the first defined polymorphism in the gene. It is present with similar gene frequencies in Asian, American White, African American, and Jewish populations.
Xu
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The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA.
Beutler
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D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics*; D044465:White People / Q000235:genetics; D001741:Black or African American
D005956:Glucose-6-Phosphate Isomerase