Coiled-Coil Domain-Containing Protein 146

Alternative Names

  • CCDC146
  • KIAA1505

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

619829

NCBI Gene ID

57639

Uniprot ID

Q8IYE0

Length

172,590 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Coiled-coil domain-containing protein 146

Molecular Mass

112806 Da

Amino Acid Count

955

Genomic Location

chr7:77,122,615-77,295,204

Gene Map Locus
7q11.23

Description

Located in centriole. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020879.3:c.748C>TSaudi ArabiaNC_000007.14:g.77259058C>TLikely PathogenicSpermatogenic Failure 1NM_020879.3:c.748C>T; NP_065930.2:p.Arg250Cys141122498
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