Name: [Hs04083785_cn] [LARGE1]
Creator: Thermo Fisher Scientific
Keywords: [LARGE1] Assay, [LARGE xylosyl- and glucuronyltransferase 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	9215
Gene Name:	LARGE xylosyl- and glucuronyltransferase 1
Gene Aliases:	LARGE, MDC1D, MDDGA6, MDDGB6
Location:	Chr.22:33066663-33922824 on Build GRCh38
Assay Gene Location:	Within Intron 15

Gene Symbol	Transcript Accession	Protein ID
LARGE1	NM_001362949.2	NP_001349878.1
	NM_001362951.2	NP_001349880.1
	NM_001362953.2	NP_001349882.1
	NM_001378624.1	NP_001365553.1
	NM_001378625.1	NP_001365554.1
	NM_001378626.1	NP_001365555.1
	NM_001378627.1	NP_001365556.1
	NM_001378628.1	NP_001365557.1
	NM_001378629.1	NP_001365558.1
	NM_001378630.1	NP_001365559.1
	NM_001378631.1	NP_001365560.1
	NM_004737.7	NP_004728.1
	NM_133642.5	NP_598397.1
	XM_024452302.2	XP_024308070.1
	XM_024452303.2	XP_024308071.1
	XM_047441599.1	XP_047297555.1
	XM_047441600.1	XP_047297556.1
	XM_047441601.1	XP_047297557.1
	XM_047441602.1	XP_047297558.1
	XM_047441603.1	XP_047297559.1
	XM_047441604.1	XP_047297560.1
	XM_047441605.1	XP_047297561.1
	XM_047441606.1	XP_047297562.1
	AB011181.3	BAA25535.3
	AJ007583.1	CAA07571.1
	AK294766.1	BAH11875.1
	AK295636.1	BAH12135.1
	AK301808.1	BAH13559.1
	AK310462.1
	BC117425.1	AAI17426.1
	BC126404.1	AAI26405.1
	CR456510.1	CAG30396.1
	KJ534877.1	AHW56517.1
	KJ535033.1	AHW56672.1
	KJ535073.1	AHW56712.1
	KJ535074.1	AHW56713.1

Target Copy Number Variation Details

DGV Version:

Release date: 2025-12-01, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1055791	Chr.22:33426240 - 33763549 on Build GRCh38	Loss	LARGE1 MIR4764 SNORA50B LARGE-AS1
nsv588932	Chr.22:33470868 - 33536638 on Build GRCh38	Gain	LARGE1
nsv1064026	Chr.22:33371199 - 33506073 on Build GRCh38	Loss	LARGE1 MIR4764
nsv6538829	Chr.22:33421845 - 33559203 on Build GRCh38	Deletion	LARGE1 MIR4764
nsv6543068	Chr.22:33501650 - 33525201 on Build GRCh38	Deletion	LARGE1
nsv6546779	Chr.22:33359964 - 33503028 on Build GRCh38	Deletion	LARGE1 MIR4764
esv2758832	Chr.22:33472959 - 33513560 on Build GRCh38	Gain+Loss	LARGE1
nsv6552934	Chr.22:33473880 - 33680313 on Build GRCh38	Deletion	LARGE1
esv2763261	Chr.22:33435362 - 33892401 on Build GRCh38	Loss	LARGE1 MIR4764 SNORA50B LARGE-AS1
esv3568379	Chr.22:33458829 - 33815605 on Build GRCh38	Loss	LARGE1 SNORA50B LARGE-AS1
dgv4562n100	Chr.22:33451090 - 33538478 on Build GRCh38	Gain	LARGE1
esv2751963	Chr.22:33459526 - 33539911 on Build GRCh38	Gain	LARGE1
nsv6537656	Chr.22:33466211 - 33538664 on Build GRCh38	Duplication	LARGE1
nsv5544834	Chr.22:33493300 - 33504421 on Build GRCh38	Deletion	LARGE1
nsv588931	Chr.22:33438682 - 33511978 on Build GRCh38	Loss	LARGE1
nsv6546707	Chr.22:33502301 - 33504300 on Build GRCh38	Deletion	LARGE1