SDR42E1 short chain dehydrogenase/reductase family 42E, member 1
Gene ID: 93517, updated on 28-Oct-2024Gene type: protein coding
Also known as: HSPC105
- See all available tests in GTR for this gene
- Go to complete Gene record for SDR42E1
- Go to Variation Viewer for SDR42E1 variants
Summary
Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-02) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 16q23.3
- Sequence:
- Chromosome: 16; NC_000016.10 (81988855..82011470, 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 SDR42E1 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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