Chromosome 1 Open Reading Frame 127

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Alternative Names

  • C1ORF127

Associated Diseases

Ciliary Dyskinesia, Primary, 1
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OMIM Number

619700

NCBI Gene ID

148345

Uniprot ID

Q8N9H9

Length

35,602 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Uncharacterized protein C1orf127

Molecular Mass

69787 Da

Amino Acid Count

656

Genomic Location

chr1:10,946,475-10,982,076

Gene Map Locus
1p36.22

Description

C1ORF127 encodes a protein predicted to play a role in left-right (LR) specification. [From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001170754.2:c.337C>TUnited Arab EmiratesNC_000001.11:g.10966393G>AUncertain SignificanceUncertain SignificanceCiliary Dyskinesia, Primary, 1NM_001170754.2:c.337C>T; NP_001164225.1:p.Arg113Ter5583234131335917
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=c1orf127

Contributors

  • Asha Deepthi: 29.08.2022

Edit History

  • Asha Deepthi: 29.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.