GENE NAME | RPGRIP1 |
CHROMOSOME | 14 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000092200 |
UNIPROT ACCESSION NUMBER | Q96KN7 |
GO MOLECULAR FUNCTION | ['protein binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
2 combinations linked to RPGRIP1 | OLI1657; OLI1665 |
2 variants linked to RPGRIP1 | RPGRIP1:c.337C>G, p.Leu113Val; RPGRIP1:c.2669G>C, p.Arg890Pro |
1 disease linked to RPGRIP1 | Bardet-Biedl syndrome |