ZMP
zgc:56326
Ensembl ID:
ZFIN ID:
Description:
4-hydroxyphenylpyruvate dioxygenase [Source:UniProtKB/Swiss-Prot;Acc:Q6TGZ5]
Human Orthologue:
HPD
Human Description:
4-hydroxyphenylpyruvate dioxygenase [Source:HGNC Symbol;Acc:5147]
Mouse Orthologue:
Hpd
Mouse Description:
4-hydroxyphenylpyruvic acid dioxygenase Gene [Source:MGI Symbol;Acc:MGI:96213]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15524 | Essential Splice Site | Available for shipment | Available now |
| sa12093 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15524
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020472 | Essential Splice Site | 11 | 388 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 5 (position 2807560)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 2553918 |
| GRCz11 | 5 | 2824124 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCTCATTTTGGYASAAAATMTTACATKTGATGTTTTTCTTTCTGTTGC[A/T]GCCMGAGAGAGGRAAGTTTCTAAACTTTCACCATATCAAATTCTGGGTGG
Long Flanking Sequence:
AAAGGGTTTGGGAAAAGTTATAACAACCTAACAGCTCACCATTTCTGTTTGTTGTTATAATGACTGACAGCTGGAGGGGCGTGGTTAAGTATCTTAGCCATGCCCAATACCTCAGACAGACCTTATCTGAGAGTTTAACTCAGAACAAACAGGTAGTGCATTTTCAGATTTCTATTAAGGATTACAAGAGTAAACCATTAGTTTGATCTTAATGACATGCACAGATTAATTGTTCAGCACAAAACAATGTGAGATAACAAAATCACTATATAGTTCTGATATGAAATCCCTTTGCTCATTTTATTTAGATGCAGACGTCAGAATGGGGCATCTTATGCTTTTGATTGATGAATATATAATTATTATTTCTGTTTTTGTCTCTCTCTCTCTTTAGACTTCTTACACAGATAAAGGAGAGAAGGTAACATGATGGCTGAGATTGATAATTTATTTCTCATTTTGGTAGAAAATATTACATGTGATGTTTTTCTTTCTGTTGC[A/T]GCCCGAGAGAGGAAAGTTTCTAAACTTTCACCATATCAAATTCTGGGTGGGAAACGCCAAACAGGTGAGCTTATGGAAAAATACAGCCTTTATGACTGTGTGGCTTTATTATTATTATTTTATTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTAGTATTAGTATTATAATTATTTTACTATTATTATTATCAATATTAGTATTATTATTTTACTATTATTATTATTAGTAATAGTATTATTATTATTATTTTACTATTATTATTGTTAGTAATAGTATTATTATTATTTTACTATTATTATTATTAGTAATAGTATTATTATTATTATTATTTTACTATTATTATTGTTAGTAATAGTATTATTACTATTATTATTATTATACTATTATTATTATTATTAATATTATTATTTTACCGTTATTAATGTTAATATTATTATATTATTATTATTTTATTATTATTATTTAACTATTATTATTATTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12093
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020472 | Essential Splice Site | 81 | 388 | 6 | 14 |
Genomic Location (Zv9):
Chromosome 5 (position 2816253)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 2562611 |
| GRCz11 | 5 | 2832817 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTTMTAAAYAGAATATYACAATGTGAATTTAATAAATATCMTCCTGTTC[A/T]GAAATGGGGGAGCATMTGATAAAACAYGGAGACGGAGTCAAAGAYRTGGC
Long Flanking Sequence:
AACTACAAAAACTTATTTATTATGTTTGATTTTAATAGTGTTTTTGGATTTTTTGTTCTCCCTGGGTGTCGCAGTAATGTAATTTCTTTCAGCATTACATCTAGTGATGGTTTGACTGACAAAATAAAAGAAACTGAACTGATTTTCTTAAATATAAGCATGCATGTGTGTATTTATATATACATACTAAGTATACACACACACACACACACACATATTATGTCAAAACAAACACTATGAGTCATTTATTAAGCATTAGCAAATAGTTAATAACTCTGCATTAATAGATGTTAGTTAGCGGTTTATAATAATTGTGTTTTCATACTTTGTTATTGATTAATTTCTCATTACTAAATTAAGTATTGCATTATTTACAAAGCAGTTATTTACAGAACAGCTAATTAACTATTTGCTAATGATAAATAATGCAGTTATTATAAAGTGTTACCAAGTTATAAACAGAATATTACAATGTGAATTTAATAAATATCATCCTGTTC[A/T]GAAATGGGGGAGCATCTGATAAAACATGGAGACGGAGTCAAAGATGTGGCGTTTCTGGTGGAGGACTGTGACTTTCTAGTCAAGGTAAACTCATGTAATTCATTCATTTTCCTTTGGCATAGTCCCTTATTTATCAGTGGTCACCACAGCGGAATGAACCGCCAACTATTCCAGCATATGGTTTACGCAGCCGATGCCCTACTACCACCAATTTAGTTAATCAATTCCCCTATAGCGCATGTGTTTGGACTGTGGGGGAAACCGGAGCACCCAGAGGAAACCCGCACCAACATGAGGAGAACATGCAAACTCCACACAGACATGCCAATTGACCCAGCCGGAACTCGAACCAGCAACCTTCTTGTTGTGAAGCCACATTGCTAACCACTGAGCCAACGTGTGGCCCGTGGTGAATGCAACATCAGCTAATATATAATCCCTCAGACTGACCTGGTTTGGCTTGAAGGGACTTTGGAATAAACATGTGTGTGTGTTTGTGT
Associated Phenotype:
Not determined