TCN1 transcobalamin 1
Gene ID: 6947, updated on 5-Mar-2024Gene type: protein coding
Also known as: HC; TC1; TCI; TC-1
- See all available tests in GTR for this gene
- Go to complete Gene record for TCN1
- Go to Variation Viewer for TCN1 variants
Summary
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. GeneReviews: Not available | |
| Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. GeneReviews: Not available | |
| Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. GeneReviews: Not available |
Genomic context
- Location:
- 11q12.1
- Sequence:
- Chromosome: 11; NC_000011.10 (59852808..59866487, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TCN1 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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