Hs03453562_cn

• Gene Symbol: NCKIPSD
• Assay Reference Genome Location: Chr.3:48672574 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 51517
• Gene Name: NCK interacting protein with SH3 domain
• Gene Aliases: AF3P21, DIP, DIP1, ORF1, SPIN90, VIP54, WASLBP, WISH
• Location: Chr.3:48663814-48685941 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NCKIPSD	XM_017006594.1			XP_016862083.1
	XM_017006595.1			XP_016862084.1
	XM_017006596.1			XP_016862085.1
	XM_017006597.1			XP_016862086.1
	XM_017006598.1			XP_016862087.1
	AJ242655.2			CAB65089.2
	AY453794.1			AAR83735.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834685	Chr.3:48527576 - 48708341 on Build GRCh38	Loss	CELSR3-AS1 PFKFB4 MIR4793 IP6K2 MIR711 MIR6824 SNORA94 UCN2 SLC26A6 MIR6823 TMEM89 NCKIPSD UQCRC1 CELSR3 COL7A1
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	CELSR3-AS1 PFKFB4 MIR4793 MIR711 MIR6824 SNORA94 UCN2 SHISA5 SLC26A6 MIR6823 TMEM89 NCKIPSD UQCRC1 CELSR3 COL7A1
nsv590247	Chr.3:48624552 - 48764496 on Build GRCh38	Loss	CELSR3-AS1 MIR4793 PRKAR2A SLC26A6 IP6K2 MIR6824 NCKIPSD CELSR3
nsv818138	Chr.3:48573492 - 48694054 on Build GRCh38	Gain	CELSR3-AS1 MIR4793 SLC26A6 IP6K2 MIR711 MIR6824 TMEM89 NCKIPSD UQCRC1 SNORA94 CELSR3 COL7A1
nsv590246	Chr.3:48590581 - 48683607 on Build GRCh38	Loss	CELSR3-AS1 MIR4793 SLC26A6 MIR6824 TMEM89 NCKIPSD UQCRC1 SNORA94 CELSR3 COL7A1

More Information

Additional Information:

For this assay, SNP(s) [rs78864109] 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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

NLS-bearing protein import into nucleus
cytoskeleton organization
signal transduction
positive regulation of neuron projection development
Fc-gamma receptor signaling pathway involved in phagocytosis

Function(s)

protein binding
cytoskeletal protein binding
SH3 domain binding