Hs04607485_cn

• Gene Symbol: PKDCC
• Assay Reference Genome Location: Chr.2:42049964 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 91461
• Gene Name: protein kinase domain containing, cytoplasmic
• Gene Aliases: SGK493, Vlk
• Location: Chr.2:42048021-42058528 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKDCC	NM_138370.2			NP_612379.2
	BC094697.1			AAH94697.1
	BC110513.1			AAI10514.1
	BC110514.1
	CF131963.1
	DB231841.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953772	Chr.2:42046161 - 42061760 on Build GRCh38	Deletion	PKDCC
nsv833903	Chr.2:41952790 - 42134588 on Build GRCh38	Gain	PKDCC C2orf91
nsv1005527	Chr.2:42026606 - 42078931 on Build GRCh38	Gain	PKDCC

More Information

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

Gene Ontology Categories:

Process(es)

skeletal system development
protein transport
peptidyl-tyrosine phosphorylation
cell differentiation
bone mineralization
positive regulation of bone mineralization
positive regulation of chondrocyte differentiation
limb morphogenesis
multicellular organism growth
negative regulation of Golgi to plasma membrane protein transport
lung alveolus development
embryonic digestive tract development
palate development

Function(s)

protein kinase activity
non-membrane spanning protein tyrosine kinase activity
ATP binding