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See other NPHP4 CNV Assays ›
Gene Symbol
NPHP4
Assay Reference Genome
Location

Chr.1:5874987 on build GRCh38
Cytoband
1p36.31
Assay ID Hs01225017_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 261734

Gene Name:

 nephronophthisis 4

Gene Aliases:

 POC10, SLSN4

Location:

 Chr.1:5862808-5992473 on Build GRCh38

Assay Gene Location:

 Within Exon 26
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP4 NM_001291593.1 18 2889 NP_001278522.1
NM_001291594.1 17 2712 NP_001278523.1
NM_015102.4 21 3199 NP_055917.1
NR_111987.1 24 3746
XM_006710563.3 21 3045 XP_006710626.1
XM_011541213.1 20 2966 XP_011539515.1
XM_011541214.1 20 2927 XP_011539516.1
XM_011541215.1 19 2858 XP_011539517.1
XM_011541216.2 22 3673 XP_011539518.1
XM_011541217.2 21 3537 XP_011539519.1
XM_011541218.2 22 3206 XP_011539520.1
XM_017000996.1 20 2924 XP_016856485.1
XM_017000997.1 21 3468 XP_016856486.1
XM_017000998.1 20 2969 XP_016856487.1
XM_017000999.1 21 2964 XP_016856488.1
XM_017001000.1 20 2797 XP_016856489.1
XM_017001001.1 15 2236 XP_016856490.1
XM_017001003.1 13 2027 XP_016856492.1
AB014573.1 16 2299 BAA31648.1
AF537130.1 21 3197 AAN06814.1
AK124074.1 17 2665
AK314326.1 18 2863
AY118228.1 21 3134 AAM78558.1
BC040520.1 24 3747 AAH40520.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv545173 Chr.1:5833391 - 6025293 on Build GRCh38 Gain MIR4689 NPHP4 KCNAB2
nsv508723 Chr.1:5777215 - 5971948 on Build GRCh38 Insertion MIR4689 NPHP4
nsv545174 Chr.1:5844658 - 5971884 on Build GRCh38 Loss MIR4689 NPHP4
nsv831203 Chr.1:5830030 - 5967902 on Build GRCh38 Loss MIR4689 NPHP4

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