Hs00846343_cn

• Gene Symbol: MIS12
• Assay Reference Genome Location: Chr.17:5489687 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	1570	NP_001245146.1
	NM_001258218.1	2	1176	NP_001245147.1
	NM_001258219.1	3	1306	NP_001245148.1
	NM_001258220.1	2	912	NP_001245149.1
	NM_024039.2	3	1412	NP_076944.1
	XM_005256797.2	3	1734	XP_005256854.1
	XM_017025033.1	2	2590	XP_016880522.1
	XM_017025034.1	3	2089	XP_016880523.1
	XM_017025035.1	4	1580	XP_016880524.1
	AK056072.1	2	1154
	AK289939.1	3	1412
	AL136906.1	3	1378	CAB66840.1
	BC000229.1	2	962	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 DERL2 NLRP1 MIS12
nsv528302	Chr.17:5482078 - 5493377 on Build GRCh38	Loss	DERL2 MIS12

More Information

Additional Information:

For this assay, SNP(s) [rs199731022] 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, 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