Variant: rs573750741

present in Gene: CA2;CA3-AS1 present in Chromosome: 8 Position on Chromosome: 85465470 Alleles of this Variant: G/A

rs573750741 in CA2;CA3-AS1 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 1301935 1992 A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.