ITPRID1 ITPR interacting domain containing 1
Gene ID: 223075, updated on 2-Nov-2024Gene type: protein coding
Also known as: CCDC129
- See all available tests in GTR for this gene
- Go to complete Gene record for ITPRID1
- Go to Variation Viewer for ITPRID1 variants
Summary
Predicted to enable signaling receptor binding activity. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. GeneReviews: Not available |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (31514090..31658720)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITPRID1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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