WD Repeat-Containing Protein 93

Alternative Names

  • WDR93

Associated Diseases

Autism
Back to search Result
OMIM Number

619891

NCBI Gene ID

56964

Uniprot ID

Q6P2C0

Length

53,291 bases

No. of Exons

22

No. of isoforms

2

Protein Name

WD repeat-containing protein 93

Molecular Mass

77378 Da

Amino Acid Count

686

Genomic Location

chr15:89,690,348-89,743,638

Gene Map Locus
15q26.1

Description

Predicted to enable oxidoreductase activity, acting on NAD(P)H. Predicted to be involved in electron transport chain. Predicted to be part of mitochondrial respiratory chain complex I. [From Alliance of Genome Resources]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020212.2:c.280T>CSudanNC_000015.10:g.89702026T>CLikely PathogenicLikely PathogenicAutismNG_051641.1:g.16953T>C; NM_020212.2:c.280T>C; NP_064597.1:p.Tyr94His730882204183287
© CAGS 2024. All rights reserved.