Details for Gene CDHR1

GENE NAME CDHR1
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000148600
UNIPROT ACCESSION NUMBER A0A0A6YYA3
GO MOLECULAR FUNCTION ['molecular_function', 'calcium ion binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
3 combinations linked to CDHR1 OLI1691; OLI1680; OLI1682
3 variants linked to CDHR1 CDHR1:c.1133G>A, p.Arg378Gln; CDHR1:c.931C>A, p.Leu311Ile; CDHR1:c.1397A>G, p.Asn466Ser
1 disease linked to CDHR1 Non-Syndromic genetic keratoconus

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