Hs07455335_cn

• Gene Symbol: MZT2A
• Assay Reference Genome Location: Chr.2:131492094 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 653784
• Gene Name: mitotic spindle organizing protein 2A
• Gene Aliases: FAM128A, MOZART2A
• Location: Chr.2:131469724-131492719 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MZT2A	NM_001085365.1			NP_001078834.1
	XM_005263741.4			XP_005263798.1
	XM_005263742.2			XP_005263799.1
	XM_017004744.1			XP_016860233.1
	AK090531.1
	BC018206.1
	BC063024.1			AAH63024.1
	BC104650.1			AAI04651.1
	BI599271.1
	BM554057.1
	BU682101.1

Target Gene Details

• Entrez Gene ID: 653269
• Gene Name: POTE ankyrin domain family member I
• Gene Aliases: POTE2beta
• Location: Chr.2:130462245-131626428 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POTEI

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1006738	Chr.2:131369287 - 131508964 on Build GRCh38	Gain	LOC150776 LINC01120 POTEI TUBA3D MZT2A NOC2LP2 MIR4784
dgv476n27	Chr.2:131319806 - 131540895 on Build GRCh38	Loss	CCDC74A LOC150776 LINC01120 POTEI WTH3DI TUBA3D MZT2A NOC2LP2 MIR4784
dgv4079n100	Chr.2:131213210 - 131543555 on Build GRCh38	Loss	CCDC74A LOC150776 LINC01120 POTEE POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	AMER3 POTEKP GPR148 LINC01120 PLEKHB2 POTEE POTEI MZT2A POTEJ FAM168B ARHGEF4 CCDC74A CYP4F30P LOC150776 WTH3DI TUBA3D LOC440910 NOC2LP2 MIR4784
esv3893359	Chr.2:131299593 - 131540895 on Build GRCh38	Gain+Loss	CCDC74A LOC150776 LINC01120 POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	AMER3 GPR148 LINC01120 PLEKHB2 POTEE POTEI MZT2A FAM168B ARHGEF4 LOC150776 WTH3DI TUBA3D LOC440910 NOC2LP2 MIR4784
esv3592484	Chr.2:131477920 - 131527155 on Build GRCh38	Gain	CCDC74A LOC150776 POTEI TUBA3D MZT2A MIR4784
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	POTEKP LINC01120 PLEKHB2 C2orf27A POTEE POTEI MZT2A FAM168B ARHGEF4 CCDC74A LOC100507460 LOC150776 C2orf27B WTH3DI TUBA3D LOC440910 NOC2LP2 MIR4784 LINC01087
esv3584079	Chr.2:131350116 - 131523250 on Build GRCh38	Loss	CCDC74A LOC150776 LINC01120 POTEI WTH3DI TUBA3D MZT2A NOC2LP2 MIR4784
nsv1014682	Chr.2:131290833 - 131612296 on Build GRCh38	Loss	CCDC74A POTEKP LOC150776 LINC01120 POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784
esv3575300	Chr.2:131198972 - 131523250 on Build GRCh38	Gain	CCDC74A LOC150776 LINC01120 POTEE POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784
nsv1002963	Chr.2:131384835 - 131589090 on Build GRCh38	Gain	CCDC74A LOC150776 LINC01120 POTEI TUBA3D MZT2A NOC2LP2 MIR4784
nsv834376	Chr.2:131426523 - 131595245 on Build GRCh38	Gain	CCDC74A POTEKP LOC150776 POTEI TUBA3D MZT2A NOC2LP2 MIR4784
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	AMER3 GPR148 LINC01120 PLEKHB2 POTEE POTEI MZT2A FAM168B ARHGEF4 CCDC74A LOC150776 WTH3DI TUBA3D LOC440910 NOC2LP2 MIR4784
nsv979124	Chr.2:131461196 - 131549886 on Build GRCh38	Duplication	CCDC74A LOC150776 POTEI TUBA3D MZT2A MIR4784
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	AMER3 GPR148 LINC01120 PLEKHB2 POTEE POTEI MZT2A POTEJ FAM168B ARHGEF4 CYP4F30P LOC150776 WTH3DI TUBA3D LOC440910 NOC2LP2 MIR4784
nsv1008539	Chr.2:131468769 - 131523332 on Build GRCh38	Gain	CCDC74A LOC150776 POTEI TUBA3D MZT2A MIR4784
dgv4077n100	Chr.2:131182622 - 131543555 on Build GRCh38	Gain	CCDC74A LOC150776 LINC01120 POTEE POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	RAB6C LOC101927924 LINC01120 PLEKHB2 POTEI MZT2A POTEJ ARHGEF4 NOC2LP1 LOC150776 CFC1 IMP4 MZT2B PTPN18 CCDC74B LOC440910 MIR4784 SMPD4 CFC1B CCDC115 POTEE MED15P9 LOC389033 TISP43 NOC2LP2 FAM201B RAB6C-AS1 GPR148 C2orf27A ANKRD30BL FAM168B GPR39 ZNF806 MIR663B CYP4F30P LOC100507460 CYP4F62P C2orf27B TUBA3D LINC01087 LOC646743 FAR2P2 AMER3 POTEKP FAR2P1 CCDC74A TUBA3E WTH3DI LOC107985778 POTEF
nsv997248	Chr.2:131390238 - 131985656 on Build GRCh38	Loss	POTEKP LINC01120 C2orf27A POTEI MZT2A CCDC74A LOC100507460 LOC150776 C2orf27B TUBA3D NOC2LP2 MIR4784 LINC01087
esv34704	Chr.2:131323539 - 131678860 on Build GRCh38	Gain	CCDC74A POTEKP LOC100507460 LOC150776 LINC01120 POTEI WTH3DI TUBA3D MZT2A NOC2LP2 MIR4784 LINC01087
esv34412	Chr.2:131197674 - 131493393 on Build GRCh38	Gain	LOC150776 LINC01120 POTEE POTEI WTH3DI TUBA3D MZT2A LOC440910 NOC2LP2 MIR4784

More Information

Additional Information:

For this assay, SNP(s) [rs561836661] 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, Intronic, Non-exonic, DGV Variation