Hs02165967_cn

• Gene Symbol: MIS12
• Assay Reference Genome Location: Chr.17:5486978 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 79003
• Gene Name: MIS12, kinetochore complex component
• Gene Aliases: 2510025F08Rik, KNTC2AP, MTW1, hMis12
• Location: Chr.17:5486374-5490814 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIS12	NM_001258217.1			NP_001245146.1
	NM_001258218.1			NP_001245147.1
	NM_001258219.1			NP_001245148.1
	NM_001258220.1			NP_001245149.1
	NM_024039.2	1	86	NP_076944.1
	XM_005256797.2	1	114	XP_005256854.1
	XM_017025033.1	1	114	XP_016880522.1
	XM_017025034.1	1	114	XP_016880523.1
	XM_017025035.1			XP_016880524.1
	AK056072.1
	AK289939.1	1	86
	AL136906.1	1	52	CAB66840.1
	BC000229.1			AAH00229.1
	DA182670.1
	DA964146.1
	DB258115.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1956	Chr.17:5470460 - 5509582 on Build GRCh38	Deletion	NLRP1 MIS12 LOC728392 DERL2
nsv528302	Chr.17:5482078 - 5493377 on Build GRCh38	Loss	MIS12 DERL2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitotic sister chromatid segregation
chromosome segregation
sister chromatid cohesion
protein localization to kinetochore
cell division
kinetochore assembly

Function(s)

protein binding