Details for Gene CCDC28B

GENE NAME CCDC28B
CHROMOSOME 1
ENSEMBL ID ENSG00000160050
ENTREZ ID 79140
UNIPROT ACCESSION NUMBER Q9BUN5
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE None
PATHWAYS
5 combinations linked to CCDC28B OLI039; OLI038; OLI041; OLI059; OLI037
1 variant linked to CCDC28B CCDC28B:c.430G>T, p.Asp144Tyr
3 diseases linked to CCDC28B Hirschsprung disease; Bardet-Biedl syndrome; Retinitis pigmentosa

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