PrimePCR™ ddPCR™ Expression Probe Assay: MCFD2, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0054680; exonic

 
Fluorophore:   FAM
List Price:    $195.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5041824
Chromosome Location:   2:47132603-47132733question
Amplicon Length:   101

Gene Information

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq Jun 2010]

Gene Symbol:   MCFD2
Gene Name:   multiple coagulation factor deficiency 2
Aliases:   DKFZp686G21263, F5F8D, F5F8D2, LMAN1IP, SDNSF
RefSeq:   NC_000002.11 NT_022184.15 NG_016428.1
Ensembl:   ENSG00000180398
Entrez:   90411
UniGene:   Hs.662152
Chromosome Mapping:   2p21

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