SLC48A1 solute carrier family 48 member 1
Gene ID: 55652, updated on 28-Oct-2024Gene type: protein coding
Also known as: HRG; HRG1; HRG-1; hHRG-1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC48A1
- Go to Variation Viewer for SLC48A1 variants
Summary
Enables heme binding activity and heme transmembrane transporter activity. Involved in heme transport. Located in endosome membrane; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.11
- Sequence:
- Chromosome: 12; NC_000012.12 (47753934..47782751)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC48A1 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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