NPHS2 c.954C>T

NPHS2 c.954C>T

The NPHS2 c.954C>T Novallele Genotyping Assay identifies a single mutation that is associated with the nephrosis 2, idiopathic, steroid-resistant (NPHS2) gene. Mutations of the NPHS2 gene, also known as the AXDND1 gene, cause dysregulation of glomerular permeability resulting in Nephrotic syndrome 2 (NPHS2). Nephrotic syndrome 2 is an autosomal recessive disorder linked to some significant characteristics such as hyperlipidemia, proteinuria, hypoalbuminemia, and edema and some non-specific characteristics such as focal segmental glomerulosclerosis and diffuse mesangial proliferation.


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Product Description

The NPHS2 c.954C>T Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.