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See other LARGE-AS1 CNV Assays ›
Gene Symbol
LARGE-AS1
Assay Reference Genome
Location

Chr.22:33733471 on build GRCh38
Cytoband
Assay ID Hs05579957_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 100506195

Gene Name:

 LARGE antisense RNA 1

Gene Aliases:

 -

Location:

 Chr.22:33724986-33750817 on Build GRCh38

Assay Gene Location:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LARGE-AS1 NR_038949.1 5 1701
NR_038950.1
AK057493.1 5 1629
OA987740.1 5 1629
OA987741.1 5 1673
OA987742.1 5 1629
OA987743.1 4 1591

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 9
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
AJ007583.1 CAA07571.1
AK294766.1 BAH11875.1
AK295636.1 BAH12135.1
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 MIR4764 LARGE-AS1 LARGE1 SNORA50B
nsv6552249 Chr.22:33707612 - 33756938 on Build GRCh38 Deletion LARGE-AS1 LARGE1
dgv4691n223 Chr.22:33699218 - 33802914 on Build GRCh38 Deletion LARGE-AS1 LARGE1 SNORA50B
nsv1060684 Chr.22:33712476 - 33744666 on Build GRCh38 Loss LARGE-AS1 LARGE1
nsv6547066 Chr.22:33728522 - 33738828 on Build GRCh38 Duplication LARGE-AS1 LARGE1
nsv4273840 Chr.22:33712277 - 33740704 on Build GRCh38 Deletion LARGE-AS1 LARGE1
nsv524432 Chr.22:33723880 - 33750381 on Build GRCh38 Loss LARGE-AS1 LARGE1
nsv522709 Chr.22:33728990 - 33735167 on Build GRCh38 Gain LARGE-AS1 LARGE1
nsv459878 Chr.22:33710759 - 33830604 on Build GRCh38 Loss LARGE-AS1 LARGE1
esv2763261 Chr.22:33435362 - 33892401 on Build GRCh38 Loss MIR4764 LARGE-AS1 LARGE1 SNORA50B
esv3568379 Chr.22:33458829 - 33815605 on Build GRCh38 Loss LARGE-AS1 LARGE1 SNORA50B
nsv1055203 Chr.22:33702431 - 33800698 on Build GRCh38 Loss LARGE-AS1 LARGE1 SNORA50B

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More Information


Set Membership:

 Intragenic Exonic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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