CEPT1 choline/ethanolamine phosphotransferase 1
Gene ID: 10390, updated on 17-Jun-2024Gene type: protein coding
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- Go to complete Gene record for CEPT1
- Go to Variation Viewer for CEPT1 variants
Summary
This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available |
Genomic context
- Location:
- 1p13.3
- Sequence:
- Chromosome: 1; NC_000001.11 (111139499..111185104)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEPT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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