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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-67f24.10
- Ensembl ID:
- ENSDARG00000060500
- ZFIN IDs:
- ZDB-GENE-090313-127, ZDB-GENE-090319-6
- Description:
- L-2-hydroxyglutarate dehydrogenase, mitochondrial [Source:RefSeq peptide;Acc:NP_001139067]
- Human Orthologue:
- L2HGDH
- Human Description:
- L-2-hydroxyglutarate dehydrogenase [Source:HGNC Symbol;Acc:20499]
- Mouse Orthologue:
- L2hgdh
- Mouse Description:
- L-2-hydroxyglutarate dehydrogenase Gene [Source:MGI Symbol;Acc:MGI:2384968]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa42255 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa42255
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000085298 | Essential Splice Site | 235 | 452 | 6 | 10 |
- Genomic Location (Zv9):
- Chromosome 13 (position 37073908)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 13 36546210 GRCz11 13 36672042 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TCTATTTTTGTTTAGGGCAGAAATACCCCATCATCATCAGAAGCTCTCAG[G/A]TGAGAAATGAATGTGTGTGTGAATCTTGCATTTGAAGTGCTTTATTTGTT
- Associated Phenotype:
- Not determined
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