Variant: rs1303913631 

    present in Gene: NPR2
    present in Chromosome: 9
    Position on Chromosome: 35806187
    Alleles of this Variant: C/T

rs1303913631 in NPR2 gene and ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 26980729 2016 Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

PMID 17652215 2007 Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.