Hs00223770_cn

• Gene Symbol: C21orf2
• Assay Reference Genome Location: Chr.21:44328997 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 755
• Gene Name: chromosome 21 open reading frame 2
• Gene Aliases: LRRC76, YF5/A2
• Location: Chr.21:44328944-44339417 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C21orf2	NM_001271440.1	7	2177	NP_001258369.1
	NM_001271441.1	7	2537	NP_001258370.1
	NM_001271442.1	8	2085	NP_001258371.1
	NM_004928.2	7	2180	NP_004919.1
	XM_006724051.3	6	2309	XP_006724114.1
	XM_006724053.3	6	1986	XP_006724116.1
	XM_017028470.1	7	2188	XP_016883959.1
	XM_017028471.1	6	2010	XP_016883960.1
	XM_017028472.1	6	2065	XP_016883961.1
	Y11392.1	7	2040	CAA72202.1
	Z93322.1	7	1979	CAB07532.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647130	Chr.21:44324439 - 44335228 on Build GRCh38	Gain	PFKL C21orf2
nsv953646	Chr.21:44279118 - 44523117 on Build GRCh38	Deletion	LOC100505727 PFKL TRPM2 C21orf2 LRRC3 TSPEAR AIRE TSPEAR-AS1 TRPM2-AS LRRC3-AS1 TSPEAR-AS2
nsv1058359	Chr.21:44304172 - 44547662 on Build GRCh38	Gain	LOC100505727 PFKL TRPM2 C21orf2 LRRC3 TSPEAR KRTAP10-1 TSPEAR-AS1 TRPM2-AS LRRC3-AS1 TSPEAR-AS2
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	PFKL KRTAP10-4 TSPEAR KRTAP10-1 KRTAP10-5 LOC105372833 TSPEAR-AS2 LOC100505727 KRTAP10-3 DNMT3L TRPM2 KRTAP10-6 C21orf2 LRRC3 AIRE TSPEAR-AS1 TRPM2-AS KRTAP10-2 LRRC3-AS1
nsv587779	Chr.21:44300477 - 44330463 on Build GRCh38	Loss	PFKL C21orf2
nsv509800	Chr.21:44284048 - 44471571 on Build GRCh38	Insertion	PFKL TRPM2 C21orf2 LRRC3 AIRE TRPM2-AS LRRC3-AS1
nsv587740	Chr.21:44209682 - 44429981 on Build GRCh38	Loss	PFKL DNMT3L ICOSLG TRPM2 C21orf2 AIRE LOC105372833 TRPM2-AS
nsv587780	Chr.21:44302559 - 44344514 on Build GRCh38	Loss	PFKL C21orf2
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	KRTAP10-7 ICOSLG AATBC TRAPPC10 C21orf2 PWP2 LRRC3 KRTAP10-8 TRPM2-AS KRTAP10-2 LRRC3-AS1 PDXK PFKL RRP1 C21orf33 KRTAP10-4 KRTAP10-10 TSPEAR KRTAP10-1 KRTAP10-5 LOC105372833 TSPEAR-AS2 KRTAP10-9 LOC100505727 KRTAP10-3 AGPAT3 KRTAP10-11 DNMT3L TRPM2 KRTAP10-6 CSTB AIRE TSPEAR-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs77610661] 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)

cytoskeleton organization
smoothened signaling pathway
regulation of cell shape
cilium morphogenesis

Function(s)

molecular_function
protein binding