Details for Gene RPGRIP1

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

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