Search

  • Fale Conosco
  • Pedido rápido

System Message

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

Chr.2:110123826 on build GRCh38
Cytoband
Assay ID Hs00002984_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

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:

 Within Exon 23
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NPHP1 NM_000272.5 20 2212 NP_000263.2
NM_001128178.3 20 2044 NP_001121650.1
NM_001128179.3 18 1855 NP_001121651.1
NM_001374256.1 20 2041 NP_001361185.1
NM_001374257.1 21 2179 NP_001361186.1
NM_207181.4 20 2209 NP_997064.2
XM_005263676.2 21 2149 XP_005263733.1
XM_005263677.2 21 2146 XP_005263734.1
XM_006712551.2 21 2317 XP_006712614.1
XM_011511244.2 22 2459 XP_011509546.1
AF023674.1 20 2162 AAC51771.1
AJ001815.1 20 2197 CAA05030.1
AK225600.1 20 2023
AK299011.1 20 2019 BAG61092.1
BC062574.1 18 1814 AAH62574.1
BX571745.1 16 9530 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 LIMS3-LOC440895 LINC01106 MTLN MIR4436B1 RGPD5 MIR4436B2 MIR4267 RGPD6 LINC01123 LIMS4 LOC440895 NPHP1 MALL RANBP2 LOC128966597 LOC100507334 LIMS3 LOC100288570
nsv515996 Chr.2:110072078 - 110224953 on Build GRCh38 Gain+Loss MTLN NPHP1 MALL MIR4436B1
dgv4046n100 Chr.2:110087613 - 110226092 on Build GRCh38 Loss MTLN NPHP1 MALL
dgv7004n54 Chr.2:110114088 - 110228972 on Build GRCh38 Gain MTLN NPHP1 MALL
dgv1162e212 Chr.2:109504090 - 110630891 on Build GRCh38 Gain LIMS3-LOC440895 LINC01106 MTLN MIR4436B1 LOC105373553 RGPD5 SOWAHC MIR4436B2 MIR4267 SH3RF3 RGPD6 SEPTIN10 LINC01123 LIMS4 LOC440895 NPHP1 MALL RANBP2 LOC128966597 LOC100507334 LIMS3 LOC100288570
esv3575292 Chr.2:110116750 - 110608419 on Build GRCh38 Gain LIMS4 LINC01106 MTLN NPHP1 MALL LOC128966597 LOC100507334 MIR4436B2 RGPD6 LOC100288570
nsv1010477 Chr.2:109946455 - 110226092 on Build GRCh38 Gain+Loss LIMS3-LOC440895 LINC01123 LOC440895 MTLN NPHP1 MALL MIR4436B1 MIR4267
dgv4041n100 Chr.2:110067648 - 110226092 on Build GRCh38 Gain MTLN NPHP1 MALL MIR4436B1 MIR4267
nsv582685 Chr.2:110117552 - 110133856 on Build GRCh38 Loss NPHP1 MALL
nsv962108 Chr.2:110117247 - 110231208 on Build GRCh38 Duplication MTLN NPHP1 MALL
esv33999 Chr.2:110097275 - 110215824 on Build GRCh38 Loss MTLN NPHP1 MALL
dgv7002n54 Chr.2:110086470 - 110225743 on Build GRCh38 Loss MTLN NPHP1 MALL MIR4436B1
nsv834329 Chr.2:109976032 - 110134607 on Build GRCh38 Gain LINC01123 NPHP1 MALL MIR4436B1 MIR4267
nsv4518500 Chr.2:110094922 - 110231423 on Build GRCh38 Deletion MTLN NPHP1 MALL
esv3584010 Chr.2:109746742 - 110225841 on Build GRCh38 Loss LIMS3-LOC440895 LINC01123 LOC440895 MTLN NPHP1 MALL MIR4436B1 RANBP2 RGPD5 LIMS3 MIR4267
nsv5442426 Chr.2:109913618 - 110441618 on Build GRCh38 Deletion LIMS3-LOC440895 LINC01106 MTLN MIR4436B1 MIR4436B2 MIR4267 LINC01123 LIMS4 LOC440895 NPHP1 MALL LOC128966597 LOC100507334 LIMS3 LOC100288570
dgv7000n54 Chr.2:110059554 - 110227938 on Build GRCh38 Loss MTLN NPHP1 MALL MIR4436B1 MIR4267
dgv4734n152 Chr.2:109929060 - 110398674 on Build GRCh38 Deletion LIMS3-LOC440895 LINC01106 MTLN MIR4436B1 MIR4436B2 MIR4267 LINC01123 LIMS4 LOC440895 NPHP1 MALL LOC128966597 LOC100507334
dgv6999n54 Chr.2:110038675 - 110225473 on Build GRCh38 Gain MTLN NPHP1 MALL MIR4436B1 MIR4267
esv3575293 Chr.2:110119300 - 110222531 on Build GRCh38 Gain MTLN NPHP1
esv2751812 Chr.2:109699637 - 110222769 on Build GRCh38 Loss LIMS3-LOC440895 LINC01123 LOC440895 MTLN NPHP1 MALL MIR4436B1 RANBP2 RGPD5 LIMS3 MIR4267
dgv154e55 Chr.2:110076984 - 110223048 on Build GRCh38 Loss MTLN NPHP1 MALL MIR4436B1
nsv4077095 Chr.2:110009423 - 110365423 on Build GRCh38 Duplication LIMS4 MTLN NPHP1 MALL MIR4436B1 LOC128966597 LOC100507334 MIR4436B2 MIR4267
nsv3118099 Chr.2:110118191 - 110210393 on Build GRCh38 Duplication NPHP1
nsv5436824 Chr.2:110057618 - 110259618 on Build GRCh38 Deletion MTLN NPHP1 MALL MIR4436B1 LOC100507334 MIR4267
nsv4520079 Chr.2:110117422 - 110215273 on Build GRCh38 Duplication MTLN NPHP1 MALL
esv3591956 Chr.2:110106453 - 110129423 on Build GRCh38 Gain NPHP1 MALL
nsv3114068 Chr.2:110104902 - 110411537 on Build GRCh38 Duplication LIMS4 LINC01106 MTLN NPHP1 MALL LOC128966597 LOC100507334 MIR4436B2 LOC100288570
dgv4037n100 Chr.2:109591601 - 110226092 on Build GRCh38 Gain LIMS3-LOC440895 MTLN MIR4436B1 RGPD5 SOWAHC MIR4267 SEPTIN10 LINC01123 LOC440895 NPHP1 MALL RANBP2 LIMS3
esv3893070 Chr.2:110067532 - 110225473 on Build GRCh38 Gain+Loss MTLN NPHP1 MALL MIR4436B1 MIR4267
nsv2875 Chr.2:110110097 - 110154879 on Build GRCh38 Deletion NPHP1 MALL
nsv582654 Chr.2:109937987 - 110225743 on Build GRCh38 Loss LIMS3-LOC440895 LINC01123 LOC440895 MTLN NPHP1 MALL MIR4436B1 MIR4267
dgv728e214 Chr.2:110095276 - 110225397 on Build GRCh38 Gain MTLN NPHP1 MALL
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-LOC440895 MTLN MIR4436B1 RGPD5 MIR4436B2 MIR4267 LINC01123 LOC440895 NPHP1 MALL RANBP2 LOC128966597 LOC100507334 LIMS3
esv3693333 Chr.2:110060256 - 110225473 on Build GRCh38 Gain+Loss MTLN NPHP1 MALL MIR4436B1 MIR4267
dgv4044n100 Chr.2:110079504 - 110226092 on Build GRCh38 Gain+Loss MTLN NPHP1 MALL MIR4436B1
nsv5435509 Chr.2:109743550 - 110910000 on Build GRCh38 Duplication LIMS3-LOC440895 ACOXL LINC01106 MTLN SNORD132 MIR4436B1 LOC105373553 BUB1 RGPD5 MIR4436B2 MIR4267 RGPD6 LINC01123 LIMS4 LOC440895 NPHP1 MALL RANBP2 LOC128966597 LOC100507334 LIMS3 LOC100288570
nsv5444675 Chr.2:110047618 - 110274704 on Build GRCh38 Duplication MTLN NPHP1 MALL MIR4436B1 LOC100507334 MIR4267

Back To Top

Related Products