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See other LARGE1 CNV Assays ›
Gene Symbol
LARGE1
Assay Reference Genome
Location

Chr.22:33795372 on build GRCh38
Cytoband
Assay ID Hs04506824_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 Exon Location Assay Transcript Location 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
esv2758833 Chr.22:33773808 - 33807492 on Build GRCh38 Loss LARGE1
dgv4691n223 Chr.22:33699218 - 33802914 on Build GRCh38 Deletion LARGE1 SNORA50B LARGE-AS1
esv3647634 Chr.22:33795330 - 33797659 on Build GRCh38 Loss LARGE1
nsv5540792 Chr.22:33795381 - 33797706 on Build GRCh38 Deletion LARGE1
nsv459878 Chr.22:33710759 - 33830604 on Build GRCh38 Loss LARGE1 LARGE-AS1
nsv6548162 Chr.22:33787559 - 33825116 on Build GRCh38 Deletion LARGE1
nsv6042341 Chr.22:33735842 - 33858438 on Build GRCh38 Deletion LARGE1 LARGE-AS1
esv2763261 Chr.22:33435362 - 33892401 on Build GRCh38 Loss LARGE1 SNORA50B LARGE-AS1 MIR4764
esv3568379 Chr.22:33458829 - 33815605 on Build GRCh38 Loss LARGE1 SNORA50B LARGE-AS1
nsv1055203 Chr.22:33702431 - 33800698 on Build GRCh38 Loss LARGE1 SNORA50B LARGE-AS1
nsv524156 Chr.22:33749609 - 33864750 on Build GRCh38 Loss LARGE1 LARGE-AS1

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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