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

Chr.2:110146795 on build GRCh38
Cytoband
Assay ID Hs00126067_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.2:110123348-110205013 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 14 - Exon 15
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP1 NM_000272.5 NP_000263.2
NM_001128178.3 NP_001121650.1
NM_001128179.3 NP_001121651.1
NM_001374256.1 NP_001361185.1
NM_001374257.1 NP_001361186.1
NM_207181.4 NP_997064.2
XM_005263676.2 XP_005263733.1
XM_005263677.2 XP_005263734.1
XM_006712551.2 XP_006712614.1
XM_011511244.2 XP_011509546.1
AF023674.1 AAC51771.1
AJ001815.1 CAA05030.1
AK225600.1
AK299011.1 BAG61092.1
AK307654.1
BC062574.1 AAH62574.1
BX571745.1 CAE11870.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv1163e212 Chr.2:109740565 - 110608419 on Build GRCh38 Loss LIMS4 LIMS3 MIR4436B1 LOC100288570 LOC100507334 LOC128966597 MALL MIR4436B2 NPHP1 LINC01106 MIR4267 LINC01123 RGPD5 MTLN RANBP2 LOC440895 LIMS3-LOC440895 RGPD6
nsv515996 Chr.2:110072078 - 110224953 on Build GRCh38 Gain+Loss NPHP1 MIR4436B1 MALL MTLN
dgv4046n100 Chr.2:110087613 - 110226092 on Build GRCh38 Loss NPHP1 MALL MTLN
dgv7004n54 Chr.2:110114088 - 110228972 on Build GRCh38 Gain NPHP1 MALL MTLN
dgv1162e212 Chr.2:109504090 - 110630891 on Build GRCh38 Gain LIMS4 LIMS3 SOWAHC MIR4436B1 SH3RF3 LOC100288570 LOC100507334 LOC128966597 MALL SEPTIN10 MIR4436B2 NPHP1 LOC105373553 LINC01106 MIR4267 LINC01123 RGPD5 MTLN RANBP2 LOC440895 LIMS3-LOC440895 RGPD6
esv3575292 Chr.2:110116750 - 110608419 on Build GRCh38 Gain MIR4436B2 NPHP1 LIMS4 LINC01106 LOC100288570 LOC100507334 LOC128966597 MALL MTLN RGPD6
nsv1010477 Chr.2:109946455 - 110226092 on Build GRCh38 Gain+Loss NPHP1 MIR4267 MIR4436B1 LINC01123 MALL MTLN LOC440895 LIMS3-LOC440895
dgv4041n100 Chr.2:110067648 - 110226092 on Build GRCh38 Gain NPHP1 MIR4267 MIR4436B1 MALL MTLN
nsv962108 Chr.2:110117247 - 110231208 on Build GRCh38 Duplication NPHP1 MALL MTLN
esv33999 Chr.2:110097275 - 110215824 on Build GRCh38 Loss NPHP1 MALL MTLN
dgv7002n54 Chr.2:110086470 - 110225743 on Build GRCh38 Loss NPHP1 MIR4436B1 MALL MTLN
nsv4518500 Chr.2:110094922 - 110231423 on Build GRCh38 Deletion NPHP1 MALL MTLN
esv3591957 Chr.2:110139413 - 110160345 on Build GRCh38 Loss NPHP1
esv3584010 Chr.2:109746742 - 110225841 on Build GRCh38 Loss NPHP1 LIMS3 MIR4267 MIR4436B1 LINC01123 RGPD5 MALL MTLN RANBP2 LOC440895 LIMS3-LOC440895
nsv5442426 Chr.2:109913618 - 110441618 on Build GRCh38 Deletion LIMS4 LIMS3 MIR4436B1 LOC100288570 LOC100507334 LOC128966597 MALL MIR4436B2 NPHP1 LINC01106 MIR4267 LINC01123 MTLN LOC440895 LIMS3-LOC440895
dgv7000n54 Chr.2:110059554 - 110227938 on Build GRCh38 Loss NPHP1 MIR4267 MIR4436B1 MALL MTLN
dgv4734n152 Chr.2:109929060 - 110398674 on Build GRCh38 Deletion LIMS4 MIR4436B1 LOC100507334 LOC128966597 MALL MIR4436B2 NPHP1 LINC01106 MIR4267 LINC01123 MTLN LOC440895 LIMS3-LOC440895
esv3575293 Chr.2:110119300 - 110222531 on Build GRCh38 Gain NPHP1 MTLN
dgv6999n54 Chr.2:110038675 - 110225473 on Build GRCh38 Gain NPHP1 MIR4267 MIR4436B1 MALL MTLN
nsv5453560 Chr.2:110137618 - 110196000 on Build GRCh38 Duplication NPHP1
esv2751812 Chr.2:109699637 - 110222769 on Build GRCh38 Loss NPHP1 LIMS3 MIR4267 MIR4436B1 LINC01123 RGPD5 MALL MTLN RANBP2 LOC440895 LIMS3-LOC440895
dgv154e55 Chr.2:110076984 - 110223048 on Build GRCh38 Loss NPHP1 MIR4436B1 MALL MTLN
nsv4077095 Chr.2:110009423 - 110365423 on Build GRCh38 Duplication MIR4436B2 NPHP1 LIMS4 MIR4267 MIR4436B1 LOC100507334 LOC128966597 MALL MTLN
nsv3118099 Chr.2:110118191 - 110210393 on Build GRCh38 Duplication NPHP1
nsv4520079 Chr.2:110117422 - 110215273 on Build GRCh38 Duplication NPHP1 MALL MTLN
nsv5436824 Chr.2:110057618 - 110259618 on Build GRCh38 Deletion NPHP1 MIR4267 MIR4436B1 LOC100507334 MALL MTLN
nsv458984 Chr.2:110143318 - 110217118 on Build GRCh38 Loss NPHP1 MTLN
nsv3114068 Chr.2:110104902 - 110411537 on Build GRCh38 Duplication MIR4436B2 NPHP1 LIMS4 LINC01106 LOC100288570 LOC100507334 LOC128966597 MALL MTLN
dgv4037n100 Chr.2:109591601 - 110226092 on Build GRCh38 Gain LIMS3 SOWAHC MIR4436B1 MALL SEPTIN10 NPHP1 MIR4267 LINC01123 RGPD5 MTLN RANBP2 LOC440895 LIMS3-LOC440895
esv3893070 Chr.2:110067532 - 110225473 on Build GRCh38 Gain+Loss NPHP1 MIR4267 MIR4436B1 MALL MTLN
nsv2875 Chr.2:110110097 - 110154879 on Build GRCh38 Deletion NPHP1 MALL
nsv582654 Chr.2:109937987 - 110225743 on Build GRCh38 Loss NPHP1 MIR4267 MIR4436B1 LINC01123 MALL MTLN LOC440895 LIMS3-LOC440895
dgv728e214 Chr.2:110095276 - 110225397 on Build GRCh38 Gain NPHP1 MALL MTLN
nsv582666 Chr.2:110095298 - 110149329 on Build GRCh38 Loss NPHP1 MALL
dgv7003n54 Chr.2:110099666 - 110177146 on Build GRCh38 Loss NPHP1 MALL
nsv1003103 Chr.2:109746757 - 110327308 on Build GRCh38 Gain+Loss LIMS3 MIR4436B1 LOC100507334 LOC128966597 MALL MIR4436B2 NPHP1 MIR4267 LINC01123 RGPD5 MTLN RANBP2 LOC440895 LIMS3-LOC440895
esv3693333 Chr.2:110060256 - 110225473 on Build GRCh38 Gain+Loss NPHP1 MIR4267 MIR4436B1 MALL MTLN
dgv4044n100 Chr.2:110079504 - 110226092 on Build GRCh38 Gain+Loss NPHP1 MIR4436B1 MALL MTLN
nsv582688 Chr.2:110131531 - 110161744 on Build GRCh38 Loss NPHP1
nsv5435509 Chr.2:109743550 - 110910000 on Build GRCh38 Duplication SNORD132 LIMS4 LIMS3 MIR4436B1 LOC100288570 LOC100507334 BUB1 LOC128966597 MALL MIR4436B2 NPHP1 LOC105373553 LINC01106 ACOXL MIR4267 LINC01123 RGPD5 MTLN RANBP2 LOC440895 LIMS3-LOC440895 RGPD6
nsv5444675 Chr.2:110047618 - 110274704 on Build GRCh38 Duplication NPHP1 MIR4267 MIR4436B1 LOC100507334 MALL MTLN

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