present in Gene: CD36
present in Chromosome: 7
Position on Chromosome: 80656687
Alleles of this Variant: C/T
rs75326924 in
CD36 gene and
Blood Platelet Disorders
PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.
PMID 15282206 2004 A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.
PMID 11019968 2000 Phenotype-genotype correlation in CD36 deficiency types I and II.
PMID 25798958 2015 Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects.
PMID 24917573 2014 Free fatty acid uptake in humans with CD36 deficiency.
PMID 11718687 2001 Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese.
PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.
PMID 10946357 2000 Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.
PMID 24960640 2014 Variants of CD36 gene and their association with CD36 protein expression in platelets.
rs75326924 in
CD36 gene and
Platelet Glycoprotein IV Deficiency
PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.
PMID 7686693 1993 A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency.
PMID 10946357 2000 Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.
PMID 11019968 2000 Phenotype-genotype correlation in CD36 deficiency types I and II.
PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.