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Symbol report for RPGRIP1L

HGNC data for RPGRIP1L

Approved symbol
RPGRIP1L
Approved name

RPGRIP1 like

Locus type
gene with protein product
HGNC ID
HGNC:29168
Symbol status
Approved
Previous names
RPGRIP1-like
Alias symbols
KIAA1005
CORS3
JBTS7
MKS5
NPHP8
FTM
PPP1R134
Alias names
fantom homolog
Meckel syndrome, type 5
protein phosphatase 1, regulatory subunit 134
Chromosomal location
16q12.2
Gene groups
Gene resources for RPGRIP1L
Ensembl
ENSG00000103494 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
23322 Curated
UCSC
uc002eho.5
Alliance of Genome Resources
HGNC:29168
Nucleotide resources for RPGRIP1L
MANE Select
NM_015272.5
ENST00000647211.2
RefSeq
NM_015272 Curated
NCBI sequence viewer
Protein resources for RPGRIP1L
UniProt/Swiss-Prot
Q68CZ1
InterProPDBeReactome
AlphaFold
AF-Q68CZ1-F1
Orthologs from selected species for RPGRIP1L
Bos taurus
RPGRIP1L VGNC:34105 VGNC
Canis familiaris
RPGRIP1L VGNC:45712 VGNC
Equus caballus
RPGRIP1L VGNC:22518 VGNC
Felis catus
RPGRIP1L VGNC:64734 VGNC
Macaca mulatta
RPGRIP1L VGNC:77124 VGNC
Mus musculus
Rpgrip1l MGI:1920563 Curated
Pan troglodytes
RPGRIP1L VGNC:10368 VGNC
Rattus norvegicus
Rpgrip1l RGD:1311099
Sus scrofa
RPGRIP1L VGNC:92424 VGNC
Clinical resources for RPGRIP1L
OMIM
610937
LRG
LRG_696 Curated
GenCC
HGNC:29168
MedlinePlus
Search via RPGRIP1L
DECIPHER
Search via RPGRIP1L
ClinGen
Search via HGNC:29168
Genetic Testing Registry
Search via NCBI Gene ID 23322
ClinVar
Search via NCBI Gene ID 23322
dbVar
Search via NCBI Gene ID 23322
Orphanet
140541
Other resources for RPGRIP1L
AmiGO
Search via Q68CZ1
QuickGO
Search via Q68CZ1
BioGPS
Search via NCBI Gene ID 23322
GeneCards
Search via HGNC:29168
Monarch
Search via HGNC:29168
WikiGenes
Search via NCBI Gene ID 23322
References for RPGRIP1L