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See other NPHP1 CNV Assays ›
Gene Symbol
NPHP1
Assay Reference Genome
Location

Chr.2:110130441 on build GRCh38
Cytoband
2q13
Assay ID Hs04237866_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 4867

Gene Name:

 nephrocystin 1

Gene Aliases:

 JBTS4, NPH1, SLSN1

Location:

 Chr.2:110123336-110205062 on Build GRCh38

Assay Gene Location:

 Within Intron 18
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP1 NM_000272.3 NP_000263.2
NM_001128178.1 NP_001121650.1
NM_001128179.1 NP_001121651.1
NM_207181.2 NP_997064.2
XM_005263676.1 XP_005263733.1
XM_005263677.1 XP_005263734.1
XM_005263678.2 XP_005263735.1
XM_005263679.1 XP_005263736.1
XM_006712551.1 XP_006712614.1
XM_011511244.1 XP_011509546.1
XM_017004218.1 XP_016859707.1
AF023674.1 AAC51771.1
AJ001815.1 CAA05030.1
AK225600.1
AK299011.1
AK307654.1
BC062574.1 AAH62574.1
BX571745.1 CAE11870.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470479 Chr.2:110072078 - 110224953 on Build GRCh38 Gain NPHP1 LINC00116 MALL MIR4436B1
dgv1163e212 Chr.2:109740565 - 110608419 on Build GRCh38 Loss NPHP1 LIMS4 LINC01123 LOC105375809 LIMS3-LOC440895 MIR4267 LINC01106 MALL RANBP2 LOC100507334 LIMS3 LOC105373985 MIR4436B2 RGPD5 RGPD6 LOC100288570 LINC00116 LOC440895 MIR4436B1
dgv4046n100 Chr.2:110087613 - 110226092 on Build GRCh38 Loss NPHP1 LINC00116 MALL
dgv7004n54 Chr.2:110114088 - 110228972 on Build GRCh38 Gain NPHP1 LINC00116 MALL
dgv1162e212 Chr.2:109504090 - 110630891 on Build GRCh38 Gain NPHP1 LIMS4 LINC01123 LOC105375809 LIMS3-LOC440895 MIR4267 LINC01106 MALL RANBP2 LOC100507334 LIMS3 LOC105373985 MIR4436B2 SEPT10 RGPD5 RGPD6 LOC100288570 LINC00116 SH3RF3 LOC105373553 SOWAHC LOC440895 MIR4436B1
esv3575292 Chr.2:110116750 - 110608419 on Build GRCh38 Gain LOC100288570 NPHP1 LINC00116 LIMS4 LOC105375809 LINC01106 MALL LOC100507334 MIR4436B2 RGPD6
nsv582685 Chr.2:110117552 - 110133856 on Build GRCh38 Loss NPHP1 MALL
dgv4041n100 Chr.2:110067648 - 110226092 on Build GRCh38 Gain NPHP1 LINC00116 MIR4267 MALL MIR4436B1
nsv1010477 Chr.2:109946455 - 110226092 on Build GRCh38 Gain+Loss NPHP1 LINC00116 LINC01123 LIMS3-LOC440895 MIR4267 MALL LOC440895 LOC105373985 MIR4436B1
nsv962108 Chr.2:110117247 - 110231208 on Build GRCh38 Duplication NPHP1 LINC00116 MALL
esv33999 Chr.2:110097275 - 110215824 on Build GRCh38 Loss NPHP1 LINC00116 MALL
dgv7002n54 Chr.2:110086470 - 110225743 on Build GRCh38 Loss NPHP1 LINC00116 MALL MIR4436B1
nsv834329 Chr.2:109976032 - 110134607 on Build GRCh38 Gain NPHP1 LINC01123 MIR4267 MALL LOC105373985 MIR4436B1
esv3584010 Chr.2:109746742 - 110225841 on Build GRCh38 Loss NPHP1 LINC00116 LINC01123 LIMS3-LOC440895 MIR4267 MALL RANBP2 LIMS3 LOC440895 LOC105373985 RGPD5 MIR4436B1
dgv7000n54 Chr.2:110059554 - 110227938 on Build GRCh38 Loss NPHP1 LINC00116 MIR4267 MALL MIR4436B1
esv3575293 Chr.2:110119300 - 110222531 on Build GRCh38 Gain NPHP1 LINC00116
dgv6999n54 Chr.2:110038675 - 110225473 on Build GRCh38 Gain NPHP1 LINC00116 MIR4267 MALL MIR4436B1
esv2751812 Chr.2:109699637 - 110222769 on Build GRCh38 Loss NPHP1 LINC00116 LINC01123 LIMS3-LOC440895 MIR4267 MALL RANBP2 LIMS3 LOC440895 LOC105373985 RGPD5 MIR4436B1
dgv154e55 Chr.2:110076984 - 110223048 on Build GRCh38 Loss NPHP1 LINC00116 MALL MIR4436B1
nsv2875 Chr.2:110110097 - 110154879 on Build GRCh38 Deletion NPHP1 MALL
esv3893070 Chr.2:110067532 - 110225473 on Build GRCh38 Gain+Loss NPHP1 LINC00116 MIR4267 MALL MIR4436B1
dgv4037n100 Chr.2:109591601 - 110226092 on Build GRCh38 Gain NPHP1 LINC01123 LIMS3-LOC440895 MIR4267 MALL RANBP2 LIMS3 LOC105373985 SEPT10 RGPD5 LINC00116 SOWAHC LOC440895 MIR4436B1
nsv582666 Chr.2:110095298 - 110149329 on Build GRCh38 Loss NPHP1 MALL
dgv727e214 Chr.2:110095276 - 110225397 on Build GRCh38 Loss NPHP1 LINC00116 MALL
nsv582654 Chr.2:109937987 - 110225743 on Build GRCh38 Loss NPHP1 LINC00116 LINC01123 LIMS3-LOC440895 MIR4267 MALL LOC440895 LOC105373985 MIR4436B1
dgv473n27 Chr.2:110099666 - 110224953 on Build GRCh38 Gain NPHP1 LINC00116 MALL
nsv1003103 Chr.2:109746757 - 110327308 on Build GRCh38 Gain+Loss NPHP1 LINC01123 LIMS3-LOC440895 MIR4267 MALL RANBP2 LOC100507334 LIMS3 LOC105373985 MIR4436B2 RGPD5 LINC00116 LOC440895 MIR4436B1
dgv4044n100 Chr.2:110079504 - 110226092 on Build GRCh38 Gain+Loss NPHP1 LINC00116 MALL MIR4436B1

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