Name: [Hs02882051_cn] [ATP6V1C2]
Creator: Thermo Fisher Scientific
Keywords: [ATP6V1C2] Assay, [ATPase H+ transporting V1 subunit C2] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	245973
Gene Name:	ATPase H+ transporting V1 subunit C2
Gene Aliases:	ATP6C2, VMA5
Location:	Chr.2:10720974-10785110 on Build GRCh38
Assay Gene Location:	Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1C2	NM_001039362.1	14	1625	NP_001034451.1
	NM_144583.3	13	1487	NP_653184.2
	XM_011510339.2	15	1622	XP_011508641.1
	XM_011510340.2	14	1484	XP_011508642.1
	XM_017003745.1	14	1614	XP_016859234.1
	AK127836.1	3	2125
	AY039759.1			AAK83464.1
	BC012142.1	12	1398	AAH12142.1

Target Gene Details

Entrez Gene ID:	10130
Gene Name:	protein disulfide isomerase family A member 6
Gene Aliases:	ERP5, P5, TXNDC7
Location:	Chr.2:10783391-10837977 on Build GRCh38
Assay Gene Location:	Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDIA6	NM_001282704.1	15	2580	NP_001269633.1
	NM_001282705.1	14	2602	NP_001269634.1
	NM_001282706.1	14	2432	NP_001269635.1
	NM_001282707.1	14	2407	NP_001269636.1
	NM_005742.3	13	2229	NP_005733.1
	XM_011510308.1	12	2073	XP_011508610.1
	AK127433.1	15	2580	BAC86977.1
	BM511594.1	1	121

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1000731	Chr.2:10618531 - 10803756 on Build GRCh38	Gain	ATP6V1C2 RN7SL832P NOL10 PDIA6
nsv580968	Chr.2:10783142 - 10793123 on Build GRCh38	Loss	ATP6V1C2 PDIA6