Hs02801317_cn

• Gene Symbol: MIS12
• Assay Reference Genome Location: Chr.17:5490483 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIS12	NM_001258217.1	3	2366	NP_001245146.1
	NM_001258218.1	2	1972	NP_001245147.1
	NM_001258219.1	3	2102	NP_001245148.1
	NM_001258220.1	2	1708	NP_001245149.1
	NM_024039.2	3	2208	NP_076944.1
	XM_005256797.2	3	2530	XP_005256854.1
	XM_017025033.1	2	3386	XP_016880522.1
	XM_017025034.1	3	2885	XP_016880523.1
	XM_017025035.1	4	2376	XP_016880524.1
	AK056072.1	2	1950
	AL136906.1	3	2174	CAB66840.1
	BC000229.1	2	1758	AAH00229.1

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	LOC728392 MIS12 DERL2 NLRP1
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