Hs04080949_cn

• Gene Symbol: NCAPH2
• Assay Reference Genome Location: Chr.22:50512921 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 29781
• Gene Name: non-SMC condensin II complex subunit H2
• Gene Aliases: CAPH2
• Location: Chr.22:50508216-50524780 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NCAPH2	NM_001185011.1			NP_001171940.1
	NM_014551.4			NP_055366.3
	NM_152299.3			NP_689512.2
	XM_005261912.4			XP_005261969.1
	XM_011530685.2			XP_011528987.1
	XM_017028793.1			XP_016884282.1
	AL021682.1			CAA16670.1
	BC000473.2			AAH00473.1
	BC001509.2			AAH01509.1
	BC001833.2			AAH01833.1
	BC001937.1			AAH01937.1
	BC009441.1			AAH09441.1
	CR456604.1			CAG30490.1
	DB498781.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758852	Chr.22:50491090 - 50578979 on Build GRCh38	Loss	CPT1B SYCE3 CHKB-CPT1B LMF2 NCAPH2 ODF3B SCO2 CHKB TYMP KLHDC7B
nsv1160782	Chr.22:50463961 - 50571524 on Build GRCh38	Deletion	CPT1B SYCE3 CHKB-CPT1B LMF2 NCAPH2 ODF3B ADM2 SBF1 MIOX SCO2 TYMP KLHDC7B
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	CPT1B CHKB-CPT1B CHKB-AS1 LMF2 ODF3B MIOX SCO2 CHKB SYCE3 NCAPH2 ADM2 TYMP KLHDC7B
nsv834238	Chr.22:50402690 - 50556965 on Build GRCh38	Loss	SYCE3 LOC107985556 LMF2 PPP6R2 NCAPH2 ODF3B ADM2 SBF1 MIOX SCO2 TYMP KLHDC7B
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	CPT1B CHKB-CPT1B LMF2 PPP6R2 ODF3B MIOX SCO2 CHKB SYCE3 NCAPH2 ADM2 SBF1 TYMP KLHDC7B
nsv955201	Chr.22:50421672 - 50537371 on Build GRCh38	Deletion	LOC107985556 LMF2 PPP6R2 NCAPH2 ODF3B ADM2 SBF1 MIOX SCO2 TYMP
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	CPT1B SYCE3 CHKB-CPT1B CHKB-AS1 LMF2 NCAPH2 ODF3B MAPK8IP2 SCO2 CHKB TYMP KLHDC7B
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	CPT1B CHKB-CPT1B CHKB-AS1 LMF2 ODF3B MIOX SCO2 CHKB ARSA SYCE3 NCAPH2 ADM2 MAPK8IP2 TYMP KLHDC7B
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	CPT1B SYCE3 CHKB-CPT1B CHKB-AS1 LMF2 NCAPH2 ODF3B SCO2 CHKB TYMP KLHDC7B

More Information

Additional Information:

For this assay, SNP(s) [rs115920265] 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

Gene Ontology Categories:

Process(es)

chromosome condensation

Function(s)

protein binding