Hs05613156_cn

• Gene Symbol: NDP
• Assay Reference Genome Location: Chr.X:43966426 on build GRCh38
• Cytoband: Xp11.3

Target Gene Details

• Entrez Gene ID: 4693
• Gene Name: NDP, norrin cystine knot growth factor
• Gene Aliases: EVR2, FEVR, ND
• Location: Chr.X:43948776-43973675 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDP	NM_000266.3			NP_000257.1
	AK313409.1
	X65724.1			CAA46639.1
	X65882.1			CAA46713.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3573914	Chr.X:43963385 - 43966804 on Build GRCh38	Loss	NDP

More Information

Additional Information:

For this assay, SNP(s) [rs145964953] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

placenta development
vacuole organization
signal transduction
cell-cell signaling
nervous system development
visual perception
sensory perception of sound
cell proliferation
Wnt signaling pathway
extracellular matrix-cell signaling
positive regulation of transcription, DNA-templated
positive regulation of sequence-specific DNA binding transcription factor activity
canonical Wnt signaling pathway
retina vasculature morphogenesis in camera-type eye

Function(s)

frizzled binding
cytokine activity
protein binding
growth factor activity
protein homodimerization activity