SHH Signaling and Ciliogenesis Regulator SDCCAG8

Alternative Names

  • SDCCAG8
  • Serologically Defined Colon Cancer Antigen 8
  • Centrosomal Colon Cancer Autoantigen Protein
  • CCCAP
  • Ny-Co-8
  • SLSN7 Gene
  • NPHP10 Gene
  • BBS16 Gene
Back to search Result
OMIM Number

613524

NCBI Gene ID

10806

Uniprot ID

Q86SQ7

Length

244,051 bases

No. of Exons

21

No. of isoforms

4

Protein Name

Serologically defined colon cancer antigen 8

Molecular Mass

82682 Da

Amino Acid Count

713

Genomic Location

chr1:243,256,040-243,500,090

Gene Map Locus
1q43-q44

Description

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006642.5:c.676-5648G>AUnited Arab EmiratesNC_000001.11:g.243299065G>ANG_027811.1:g.48061G>A; NM_006642.5:c.676-5648G>A; NP_006633.1:p.?2484639
© CAGS 2024. All rights reserved.