ASCC3 activating signal cointegrator 1 complex subunit 3
Gene ID: 10973, updated on 28-Oct-2024Gene type: protein coding
Also known as: RNAH; MRT81; HELIC1; ASC1p200
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- Go to complete Gene record for ASCC3
- Go to Variation Viewer for ASCC3 variants
Summary
This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual developmental disorder, autosomal recessive 81 | not available |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| The genetic architecture of economic and political preferences. GeneReviews: Not available |
Genomic context
- Location:
- 6q16.3
- Sequence:
- Chromosome: 6; NC_000006.12 (100508194..100881329, complement)
- Total number of exons:
- 44
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASCC3 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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