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See other NPHP3-ACAD11 CNV Assays ›
Gene Symbol
NPHP3-ACAD11
Assay Reference Genome
Location

Chr.3:132677379 on build GRCh38
Cytoband
3q22.1
Assay ID Hs02644598_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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Assay Details

Target Gene Details

Entrez Gene ID:

 100532724

Gene Name:

 NPHP3-ACAD11 readthrough (NMD candidate)

Gene Aliases:

 -

Location:

 Chr.3:132558138-132722459 on Build GRCh38

Assay Gene Location:

 Within Intron 26
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP3-ACAD11 NR_037804.1
AB082531.1 BAC02709.1
AY257867.1 AAP83426.1

Target Gene Details

Entrez Gene ID:

 79876

Gene Name:

 ubiquitin like modifier activating enzyme 5

Gene Aliases:

 THIFP1, UBE1DC1

Location:

 Chr.3:132654446-132679786 on Build GRCh38

Assay Gene Location:

 Within Exon 13
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
UBA5 NM_001320210.1 12 2259 NP_001307139.1
NM_001321238.1 10 2123 NP_001308167.1
NM_001321239.1 10 2973 NP_001308168.1
NM_024818.4 12 3109 NP_079094.1
NM_198329.3 12 2132 NP_938143.1
AL832669.1 8 3495
AY253672.1 12 2261 AAP79600.1
BU739244.1 1 417
BX537742.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv591798 Chr.3:132626804 - 132975557 on Build GRCh38 Loss ACAD11 UBA5 NPHP3-AS1 NPHP3 NPHP3-ACAD11
nsv591799 Chr.3:132662755 - 133080365 on Build GRCh38 Gain TMEM108 UBA5 NPHP3-AS1 NPHP3 NPHP3-ACAD11
nsv998211 Chr.3:132605119 - 132988974 on Build GRCh38 Loss ACAD11 UBA5 NPHP3-AS1 NPHP3 NPHP3-ACAD11
nsv4014 Chr.3:132668918 - 132704197 on Build GRCh38 Insertion UBA5 NPHP3 NPHP3-ACAD11

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