ZMP

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
sa42255	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa42255

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

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)

KASP Sequence:

None

Flanking Sequence:

TCTATTTTTGTTTAGGGCAGAAATACCCCATCATCATCAGAAGCTCTCAG[G/A]TGAGAAATGAATGTGTGTGTGAATCTTGCATTTGAAGTGCTTTATTTGTT

Long Flanking Sequence:

ATTTGAGTATTTGTAATTTGTTTCTTTACACTTGCTTATAATTGAAGAAAGTCTGTCTGCAGCCTGCTCTTTTCCCCACATTTTTATGTTGAGTAAAATGTTGCGCATATATTAATTGGCATGTTATTTATGAACCTATCCCTCTGTTAAAATCGTTCAGTATGTAGATAAAAAATTTATGAATAAAAAAAAACATGCTGAAATGGAGTTTTATGGTTTAGTGCAGGAGGAAAACTCCTTTTGAGAAAGCAGCCTTTAAAAATATGTATTCCAGTTGAAATCTACCAAAATAAATCAACTAATTGTGCTGAATAATTGCTGTATTTTGGATGTCTTTCCATTAGGCATTCGTTTTTGTTTTTCTTTTTAAATCATGAAAAGCCAAAACGCCTAAGATCTCAAATCTCTTTTTTGGCATTTGTGTCTTTCATTAATAACTCTATTCATCCCTCTATTTTTGTTTAGGGCAGAAATACCCCATCATCATCAGAAGCTCTCAG[G/A]TGAGAAATGAATGTGTGTGTGAATCTTGCATTTGAAGTGCTTTATTTGTTGGTCACTTTTGATAAAAGTGTCTGCTAAATGATTGATTGTATTGTATACACGTCGGTAAGGTTGTTGTTTGAGGTTGCCAGTGTTTGTGTGCAGGGCAAGGAGGTGCGCTGTGCTTTTGTGTTGGCGTGTGGTGGTCTCTACTCTGACCGCTTATCTGAAATGTCTGGCTGTAGTTCAGAGCCTCGTATCGTTCCTTTCAGAGGAGATTACCTGGTGCTCAAGCCAGAGAAAAATTACCTGGTCAGAGGCAACATCTACCCCGTGAGTGGAGACTCTCAAAACAAACATATCAATTCACATTTATTAGAATAAAATTGAATACAATGTTTAAGGACTCTGTTTGTGTGCTGAGGTGCCAAACCCACGATTCCCATTTCTCGGAGTTCATTTCACTCCTCGAATGGATGGAAGTGTCTGGCTAGGTCCAAACGCGGTGTTGGCTTTTAAAC

Associated Phenotype:

Not determined