Hs06335152_cn

• Gene Symbol: NUCB2
• Assay Reference Genome Location: Chr.11:17270835 on build GRCh38
• Cytoband: 11p15.1

Target Gene Details

• Entrez Gene ID: 4925
• Gene Name: nucleobindin 2
• Gene Aliases: HEL-S-109, NEFA
• Location: Chr.11:17260340-17331881 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NUCB2	XM_017017810.1			XP_016873299.1
	XM_017017811.1			XP_016873300.1
	XM_017017815.1			XP_016873304.1
	XM_017017827.1			XP_016873316.1
	AK093209.1
	AK097398.1
	AK128739.1
	EU039831.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3625472	Chr.11:17267549 - 17274665 on Build GRCh38	Loss	NUCB2
nsv7692	Chr.11:17266058 - 17299821 on Build GRCh38	Insertion	NUCB2
nsv553567	Chr.11:16890704 - 17946708 on Build GRCh38	Gain	LOC105376575 KCNJ11 NUCB2 SNORD14B MYOD1 PLEKHA7 PIK3C2A OTOG OR7E14P USH1C NCR3LG1 ABCC8 SNORD14A SERGEF RPS13 KCNC1 LOC102723330
esv2659679	Chr.11:17267531 - 17274696 on Build GRCh38	Deletion	NUCB2
nsv467711	Chr.11:17006008 - 17299250 on Build GRCh38	Gain	OR7E14P NUCB2 SNORD14B PLEKHA7 SNORD14A PIK3C2A RPS13
nsv469762	Chr.11:17149143 - 17299144 on Build GRCh38	Gain	NUCB2 PIK3C2A

More Information

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

Panther Classification:

Molecular Function -

calmodulin-related

Gene Ontology Categories:

Function(s)

DNA binding
calcium ion binding
protein binding