Hs00500251_cn

• Gene Symbol: NIPSNAP1
• Assay Reference Genome Location: Chr.22:29555394 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 8508
• Gene Name: nipsnap homolog 1 (C. elegans)
• Gene Aliases: -
• Location: Chr.22:29554808-29581337 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NIPSNAP1	NM_001202502.1	10	1350	NP_001189431.1
	NM_003634.3	10	1651	NP_003625.2
	AJ001258.1	10	1650	CAA04632.1
	AK098367.1	10	1405
	BC002371.2	10	1401	AAH02371.1
	BC006473.1	10	1401	AAH06473.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834172	Chr.22:29503047 - 29661959 on Build GRCh38	Loss	NF2 NIPSNAP1 THOC5
esv3647539	Chr.22:29545022 - 29571563 on Build GRCh38	Gain	NIPSNAP1 THOC5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sensory perception of pain

Function(s)

protein binding
neurotransmitter binding