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Symbol report for NPHP1

Stable symbol

HGNC data for NPHP1

Approved symbol
NPHP1
Approved name

nephrocystin 1

Locus type
gene with protein product
HGNC ID
HGNC:7905
Symbol status
Approved
Previous symbols
NPH1
Previous names
nephronophthisis 1 (juvenile)
Alias symbols
JBTS4
SLSN1
Chromosomal location
2q13
Gene groups
Gene resources for NPHP1
Ensembl
ENSG00000144061 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
4867 Curated
UCSC
uc002tfl.6
Alliance of Genome Resources
HGNC:7905
Nucleotide resources for NPHP1
MANE Select
NM_001128178.3
ENST00000445609.7
INSDC
AF023674 Curated
ENAGenBankDDBJ
RefSeq
NM_000272 Curated
NCBI sequence viewer
Protein resources for NPHP1
UniProt/Swiss-Prot
O15259
InterProPDBeReactome
AlphaFold
AF-O15259-F1
Orthologs from selected species for NPHP1
Bos taurus
NPHP1 VGNC:32201 VGNC
Canis familiaris
NPHP1 VGNC:43918 VGNC
Equus caballus
NPHP1 VGNC:20836 VGNC
Felis catus
NPHP1 VGNC:68531 VGNC
Macaca mulatta
NPHP1 VGNC:75383 VGNC
Mus musculus
Nphp1 MGI:1858233 Curated
Pan troglodytes
NPHP1 VGNC:10444 VGNC
Rattus norvegicus
Nphp1 RGD:1308136
Sus scrofa
NPHP1 VGNC:90848 VGNC
Clinical resources for NPHP1
OMIM
607100
GenCC
HGNC:7905
MedlinePlus
Search via NPHP1
DECIPHER
Search via NPHP1
ClinGen
Search via HGNC:7905
Genetic Testing Registry
Search via NCBI Gene ID 4867
ClinVar
Search via NCBI Gene ID 4867
dbVar
Search via NCBI Gene ID 4867
Orphanet
123874
Other resources for NPHP1
AmiGO
Search via O15259
QuickGO
Search via O15259
BioGPS
Search via NCBI Gene ID 4867
GeneCards
Search via HGNC:7905
Monarch
Search via HGNC:7905
WikiGenes
Search via NCBI Gene ID 4867