Name: [Hs05562499_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 7

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_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_047441604.1	XP_047297560.1
	XM_047441605.1	XP_047297561.1
	AB011181.3	BAA25535.3
	AI199197.1
	AJ007583.1	CAA07571.1
	AK294766.1	BAH11875.1
	AK295636.1	BAH12135.1
	BF057493.1

Target Copy Number Variation Details

DGV Version:

Release date: 2025-12-01, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv6551065	Chr.22:33808390 - 33826629 on Build GRCh38	Deletion	LARGE1
nsv526550	Chr.22:33808943 - 33825972 on Build GRCh38	Loss	LARGE1
nsv1056001	Chr.22:33810157 - 33825972 on Build GRCh38	Loss	LARGE1
dgv1546n166	Chr.22:33803461 - 33826629 on Build GRCh38	Deletion	LARGE1
nsv459878	Chr.22:33710759 - 33830604 on Build GRCh38	Loss	LARGE-AS1 LARGE1
nsv6548162	Chr.22:33787559 - 33825116 on Build GRCh38	Deletion	LARGE1
nsv6042341	Chr.22:33735842 - 33858438 on Build GRCh38	Deletion	LARGE-AS1 LARGE1
esv2763261	Chr.22:33435362 - 33892401 on Build GRCh38	Loss	LARGE-AS1 LARGE1 MIR4764 SNORA50B
nsv524156	Chr.22:33749609 - 33864750 on Build GRCh38	Loss	LARGE-AS1 LARGE1