present in Gene: TFR2
present in Chromosome: 7
Position on Chromosome: 100641198
Alleles of this Variant: C/T
rs80338876 in
TFR2 gene and
HEMOCHROMATOSIS, TYPE 3
PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
PMID 12130528 2002 Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
PMID 11313241 2001 New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.