Details for Gene DCHS1

GENE NAME DCHS1
CHROMOSOME 11
ENSEMBL ID ENSG00000166341
ENTREZ ID 8642
UNIPROT ACCESSION NUMBER Q96JQ0
GO MOLECULAR FUNCTION cadherin binding; calcium ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04392
5 combinations linked to DCHS1 OLI697; OLI707; OLI692; OLI740; OLI701
5 variants linked to DCHS1 DCHS1:c.3158G>C, p.Trp1053Ser; DCHS1:c.4072G>A, p.Glu1358Lys; DCHS1:c.5866C>T, p.His1956Tyr; DCHS1:c.7384C>T, p.Arg2462Trp; DCHS1:c.4898A>G, p.Gln1633Arg
2 diseases linked to DCHS1 Isolated anencephaly; Craniorachischisis

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