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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-207k7.4
- Ensembl ID:
- ENSDARG00000075416
- ZFIN ID:
- ZDB-GENE-070705-97
- Description:
- iron-sulfur cluster co-chaperone protein HscB, mitochondrial [Source:RefSeq peptide;Acc:NP_00112187
- Human Orthologue:
- HSCB
- Human Description:
- HscB iron-sulfur cluster co-chaperone homolog (E. coli) [Source:HGNC Symbol;Acc:28913]
- Mouse Orthologue:
- Hscb
- Mouse Description:
- HscB iron-sulfur cluster co-chaperone homolog (E. coli) Gene [Source:MGI Symbol;Acc:MGI:2141135]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa44600 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa44600
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109236 | Nonsense | 22 | 267 | 1 | 6 |
- Genomic Location (Zv9):
- Chromosome 5 (position 10991792)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 9579552 GRCz11 5 10084190 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGACTTCGGATTTTGTTAAAAACTCCCGGATTTAAACATACTTATGCATG[T/A]ATATCAAACGAACAACGTCTTAATATTGTTTTAACTCCGTGTTTGGCTTC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Esophageal cancer and gastric cancer: A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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