THUMPD1 THUMP domain containing 1
Gene ID: 55623, updated on 17-Jun-2024Gene type: protein coding
Also known as: Tan1; NEDSOA
- See all available tests in GTR for this gene
- Go to complete Gene record for THUMPD1
- Go to Variation Viewer for THUMPD1 variants
Summary
Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurodevelopmental disorder with speech delay and variable ocular anomalies | not available |
Genomic context
- Location:
- 16p12.3
- Sequence:
- Chromosome: 16; NC_000016.10 (20733664..20741818, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THUMPD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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