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

Chr.1:5877161 on build GRCh38
Cytoband
1p36.31
Assay ID Hs01553935_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 24
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP4 NM_001291593.1 17 2707 NP_001278522.1
NM_001291594.1 16 2530 NP_001278523.1
NM_015102.4 20 3017 NP_055917.1
NR_111987.1 21 3301
XM_006710563.3 20 2863 XP_006710626.1
XM_011541213.1 19 2784 XP_011539515.1
XM_011541214.1 19 2787 XP_011539516.1
XM_011541215.1 18 2676 XP_011539517.1
XM_011541216.2 21 3491 XP_011539518.1
XM_011541217.2 20 3355 XP_011539519.1
XM_011541218.2 21 3024 XP_011539520.1
XM_017000996.1 19 2784 XP_016856485.1
XM_017000997.1 20 3286 XP_016856486.1
XM_017000998.1 19 2787 XP_016856487.1
XM_017000999.1 20 2782 XP_016856488.1
XM_017001000.1 19 2615 XP_016856489.1
XM_017001001.1 14 2054 XP_016856490.1
XM_017001002.1 19 2787 XP_016856491.1
XM_017001003.1 12 1845 XP_016856492.1
AB014573.1 15 2117 BAA31648.1
AF537130.1 20 3015 AAN06814.1
AK124074.1 16 2483
AK128182.1 2 2874
AK314326.1 17 2681
AY118228.1 20 2952 AAM78558.1
BC040520.1 21 3302 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 NPHP4 MIR4689 KCNAB2
nsv508723 Chr.1:5777215 - 5971948 on Build GRCh38 Insertion NPHP4 MIR4689
nsv545174 Chr.1:5844658 - 5971884 on Build GRCh38 Loss NPHP4 MIR4689
nsv831203 Chr.1:5830030 - 5967902 on Build GRCh38 Loss NPHP4 MIR4689

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More Information


Additional Information:

For this assay, SNP(s) [rs114545322] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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