ZMP

d2hgdh

Ensembl ID:

ENSDARG00000060210

ZFIN ID:

ZDB-GENE-070112-482

Description:

D-2-hydroxyglutarate dehydrogenase, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:A1L258]

Human Orthologue:

D2HGDH

Human Description:

D-2-hydroxyglutarate dehydrogenase [Source:HGNC Symbol;Acc:28358]

Mouse Orthologues:

AC167963.1, D2hgdh

Mouse Description:

D-2-hydroxyglutarate dehydrogenase Gene [Source:MGI Symbol;Acc:MGI:2138209]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa17480	Essential Splice Site	Available for shipment	Available now
sa16838	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa17480

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
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Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000084597	Essential Splice Site	239	533	5	10

Genomic Location (Zv9):

Chromosome 2 (position 41550957)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	41707361
GRCz11	2	41556701

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACTTCTGCGCTAYGGCTCACTTAGAGGGACKGTTCTGGGCCTGGAAGTGG[T/G]GAGCACATTTACATCTASGAGATTCACACRAAAAWTTACTTMAGTTTTTT

Long Flanking Sequence:

GGATGAAAATTTTACCAAGGGGATTTTGGGAATTTTTATCGGTCTGTAATTTAGAAAATAATGAAAGCAAGATTTTTTTTTTCCAGAATACAGGTATGAAGAAAACTTTAAAGTTGACTGCAAAAGCACTGACACATATTTAAAAAAGTGCATGTAAATAAATACTTAAAAGTGTGTACTGAGTGATTTCTGTACATTTTACTAAAAAAGACTTTACGAAAAGCTCCAAAATCTATCAGGAAAGTGTTATTGTCTGTAATGTGTCACCTTAATACATTTCTTATTAAGGTTGCTTTGACTTTCAGGTATCCTCACTTGTCAGGCAGGCTGTGTGTTGGAAAACCTGTCTCACTATCTAGAGGAGAGAGACTTCATCATGCCGCTGGATCTCGGAGCAAAGGGAAGCTGTCATATTGGAGGGAATGTGTCTACTAATGCAGGTGGTCTCAGACTTCTGCGCTATGGCTCACTTAGAGGGACGGTTCTGGGCCTGGAAGTGG[T/G]GAGCACATTTACATCTACGAGATTCACACAAAAATTTACTTCAGTTTTTTCTTCAGTTAAACACAGAAGATATTTGGAAGAGTGCTGATAGCCAGAAAAGTGATGTTAAGCATTGACTGTCATTGCTTTTTTCGACTATAGAAGTCAGTGGTAACATCAACTGTTTAGTTAGCAACATTCTTTAAAATATCTTGAACCGAAAAAAAATGTATACAGACTTGGACCAACTTGAGTAAATGGCGAGTAAATGAACACACATTTATCTATGTTATTTATGAGCAGTTTTCTTGTCATATTCCATTACCCGCAACAATATTTGGATACTCCATTTTTTTACATGAGAAAGATTGTAAAAAAATAGCTTTTACTGAAAATGTCTAGATTATAAAATCTATGTAGCTTGAAGTATATGGAATTTAGAGATTTTAATAATTTTCATGACATTTTCACTTATGCAGCTAGGATTTACATTGCTTAATCTTGTTTTTTTTTCTTCTTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa16838

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000084597	Essential Splice Site	296	533	6	10

Genomic Location (Zv9):

Chromosome 2 (position 41553325)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	41704993
GRCz11	2	41554333

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCCATCCTGTGCCCCCGCAAGCCTAAAGCTGTCAATGTAGCCTTTTTAGG[T/G]AAAACACACATCAGAAATAAAGCACAATTCAAACTTGCTAAGATGTTAAG

Long Flanking Sequence:

TAACTCATGCTGTATATTCTGGGTTGGGATCTTATTTTGTCTTATTTCAAATAATTTAAAGTCATCTTTAAAAGTTGGCACTGGCCACTATTATTATGATAATGCTAAAAAAATACATGATTCGTCTAGATGCTGCATCTACATTCATGCTTCATTTGTAGGCTGTAATCTTTAAGCATCAGAAATCACCTTCTTGTTATAATTATACATATTTTTCTCTGGGTACAGGCAGAACTGAGCTGAAATGATAATAAAGCATGTCTGATGAAAGGGATCCAAGTGTCCCTAAATGGCTCTGAGTTATATTTCTTATCTTTCTTGTTTGTGTAGGTTTTGGCAGATGGACGTGTTTTGAACTGTCTGGCCACACTTCGCAAGGACAACACGGGTTATGACCTCAAGCAGCTTTTCATTGGCTCAGAAGGGACATTAGGAGTCATTACTGCTGTTTCCATCCTGTGCCCCCGCAAGCCTAAAGCTGTCAATGTAGCCTTTTTAGG[T/G]AAAACACACATCAGAAATAAAGCACAATTCAAACTTGCTAAGATGTTAAGACAGTGTATCCGTGGATCCTTAAAATTTCTTAAATGCCATAGTATAAAGATAATTAGCATTAATTAGTCTTCAAATTATGAAGTCTGCATACCAATGATGATAAAATTGCAATCTAACCGACCCCATAAAGAAGATTTTGTCTGATTTGAAATCTATCGCTATTCGTCACCCAAAACGAAATAGGCCAAACCCAATAAAAGAAATGCTTGGATGGTAATTCATTAGTTGTCCTTTTTTTTTGCAAATTCGCTACTATAAAATTATACTCTACATTTGGTCATGAATTTCTTTCTGTGTGGTATTAAAATGGTCTTAAAAAGTCTTAAATATAGCTCTTAAAAACCAGCATATTCATAGTAAGGCAGGGTTGTCAAACTCAGTTCTTGGGGTGCCGCAGGTTTAGTTCCAACCCTGCCCCGATACATTTACCTGTAGGTTTCAAACAAGCC

Associated Phenotype:

Not determined