Details for Gene EYS

GENE NAME EYS
CHROMOSOME 6
ENSEMBL ID ENSG00000188107
ENTREZ ID 346007
UNIPROT ACCESSION NUMBER Q5T1H1
GO MOLECULAR FUNCTION molecular_function; calcium ion binding
ESSENTIAL IN MOUSE None
PATHWAYS
2 combinations linked to EYS OLI185; OLI450
3 variants linked to EYS EYS:c.7723+1G>A, ; EYS:c.2756G>A, p.Gly919Glu; EYS:c.6410G>A, p.Arg2137His
1 disease linked to EYS Retinitis pigmentosa

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