USHBP1 USH1 protein network component harmonin binding protein 1
Gene ID: 83878, updated on 2-Nov-2024Gene type: protein coding
Also known as: MCC2; AIEBP
- See all available tests in GTR for this gene
- Go to complete Gene record for USHBP1
- Go to Variation Viewer for USHBP1 variants
Summary
Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Nov 2024]
Genomic context
- Location:
- 19p13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (17249171..17264745, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for USHBP1 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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