Details for Gene TSPAN12

GENE NAME TSPAN12
CHROMOSOME 7
ENSEMBL ID ENSG00000106025
ENTREZ ID 23554
UNIPROT ACCESSION NUMBER O95859
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
3 combinations linked to TSPAN12 OLI310; OLI311; OLI453
3 variants linked to TSPAN12 TSPAN12:c.194C>T, p.Pro65Leu; TSPAN12:c.535G>T, p.Asp179Tyr; TSPAN12:c.565T>C, p.Cys189Arg
1 disease linked to TSPAN12 Familial exudative vitreoretinopathy

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