ZMP

hgd

Ensembl ID:

ENSDARG00000058005

ZFIN ID:

ZDB-GENE-020802-5

Description:

homogentisate 1,2-dioxygenase [Source:RefSeq peptide;Acc:NP_694498]

Human Orthologue:

HGD

Human Description:

homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:4892]

Mouse Orthologue:

Hgd

Mouse Description:

homogentisate 1, 2-dioxygenase Gene [Source:MGI Symbol;Acc:MGI:96078]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa9565	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa9565

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000080487	Essential Splice Site	29	443	2	13
ENSDART00000121938	Essential Splice Site	29	393	2	14

Genomic Location (Zv9):

Chromosome 24 (position 24568915)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	23815793
GRCz11	24	23960967

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATTTTCCTCTGAAGACCCTCRCTGTCCAGGATCTCTACCTGAGGGACAGG[T/C]AGTGCCAAAACTTCACCTTCACCGTCTTCTTCCTGACCAATTAACAMGAC

Long Flanking Sequence:

GATCGCTTTTCCAAACCATTAGACTACTCGTTTTATAAAACAAAGTCCTAATCTGGCATAAGGAATTTAACATAATTATGGAGCACTCTTTTAGATGGTATTAGATAAACGCAAACAAATGGCCAAAATTTGTTGTCAGGTGTTTTTCAGCCGATTTTTTTCCTATGAACTATTATGAATTCTTTGTTACGTTTAACCCCTCGAGAGGATGTGTTTTCAATTAGCCCATGCAATGTTTGAGGTTTTATGAGCTGCTCTGGGCATTGCTTATGCAACATGACTAAGCATATCTGTGTTGTAGCTGAAGGTGGAGATGCTTGGATGGTGCTCCACAGCTTGTGTGTGTTGGTTTTCTTATCCTGTATGTTTTGAAAACAAAGTGAATTCACTCGTCCAGTAGTAACACTGTTGAATTACTGTGTTTTAGTACATGAGTGGCTTTGGCAATGAATTTTCCTCTGAAGACCCTCGCTGTCCAGGATCTCTACCTGAGGGACAGG[T/C]AGTGCCAAAACTTCACCTTCACCGTCTTCTTCCTGACCAATTAACAAGACAAACCAAATGCTCAGTTTACATTATTGTCTTTCAGAACAATCCCCAAGTGTGTCCATATGGCTTATATGCTGAGCAACTCTCTGGCTCTGCCTTCACTTGCCCACGCTCAAGCAATAAGAGAAGGTATATGTTTGTAATAGAGTGGTCAAACATTAAACTTTATTTTACTACGGGGACTGGTTAATGCTTGATTCTGATTGGCTGACGAATATTTTAAAGAGGTTATTTTCAGATAAATGTACAGATAAAGTAGTTTCAGTCAATTCTTGACCACATTACAGTTCCATATTATGATATTATTGTCCAAAAACTAAACAAAAGACTTTGATTGAGATGTGGAAGAAACTAGAAGTAAATACAGCATGTGTTTATGCACAAATTCTTGTCTAATGTCCTACAACAGCATCAAACACCACATTTTAACAGTGTCTTTAGCTGTGGTAACTTCA

Associated Phenotype:

Not determined