PrimePCR™ Probe Assay: NPC2, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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PrimePCR™ PreAmp for Probe Assay: NPC2, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: NPC2, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0026670
Assay Design:   Intron-spanning
Chromosome Location:   14:74951193-74953084question
Amplicon Length:   121
Splice Variants Targeted:   ENST00000434013 ENST00000541064 ENST00000555619 ENST00000238633 ENST00000553490 ENST00000556009 ENST00000557510 ENST00000555592

Gene Information

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease type C2 and frontal lobe atrophy. [provided by RefSeq Jul 2008]

Gene Symbol:   NPC2
Gene Name:   Niemann-Pick disease, type C2
Aliases:   EDDM1, HE1, MGC1333
RefSeq:   NC_000014.8 NG_007117.1 NT_026437.12
Ensembl:   ENSG00000119655
Entrez:   10577
Chromosome Mapping:   14q24.3

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