ZMP
hpd
Ensembl ID:
ZFIN ID:
Description:
4-hydroxyphenylpyruvate dioxygenase [Source:RefSeq peptide;Acc:NP_001003742]
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 |
|---|---|---|---|
| sa25400 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa27241 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa21339 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa25400
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066050 | Essential Splice Site | 199 | 393 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 35874853)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 34803277 |
| GRCz11 | 8 | 34738077 |
KASP Assay ID:
554-7620.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTGGTTGGAAATCAGCCTGACAGTGAGATGGTGCCAATAGTGGAGTGG[T/A]AAAAAAAACTTTTCTGAAAACACATTGTTGAACTTTCTTCAGATCTGATC
Long Flanking Sequence:
GATGATGGCATTCGCCATATTGACCAGAAGCCTGTGGTGTCTGGGGTACATCAGTGCACAGTACTAATGAACACTCACAAGTTTTCTTATAGCTTCACAATATTCCAGTTTAGCTCTCAGATTTTATTCAAAATATCTTAATGTTTGTTCCAAAGATTATCTAAGGGGACTGGAACGACATGAGGGTAAATAAACAACAACATACTTTTTTCATTTTTAAGTGAACTAACCCTTTAAAATGACCTGAATTTTGTTAATTATTAATATGGATGCTGATATCGTTTGTTAGTTATTAGTACTCTCCATTCTTGGTGTAAGAATCATCCTCATGCTTACATCAAAGCTTTATATTTTAGATCGTGCATGGATGGTTTGTTTTCTACCAGTGTGTTTTCTTTTTAATGTGGCTCTTCTTTTACAGACCAAGCGGAAAGCTGGACTTCATCGACCATGTGGTTGGAAATCAGCCTGACAGTGAGATGGTGCCAATAGTGGAGTGG[T/A]AAAAAAAACTTTTCTGAAAACACATTGTTGAACTTTCTTCAGATCTGATCAGTCAGGCAGCATCAGATCTCAGTGCCAGGGTTGTGTAAGACTGAAAAGCATAAAAGAAGCCACAAGAGATACTCGCCTAGAATACAGTGCAAGTCTTTGGGGGGAAACTCCCAATCCATCCCATCCAGTCAGATCCACAGACAGGCCATCCCGAGAGATCAGGCAGCATCTCCATGGTGAGGATGAAGGAAAGAGAGAGACGAAACGTTGGGAGAAAGAGAATAGATGGCAGATGTGCTGCTTGTGTTTTAGTCTATGGAAAGGAGGACTGCATGTTACGCAACAAAACTTTTCAGTAATTATGACTCAGCAAAATGGCTTTTTAAAGGGTCTTCGACACCATCTGGAGATGGTTAAACACAGTGGGGAGGGGGAGAAAGAGGGAGGCGAAGGAATAACTGAATTATCTAAACCAGACCCCATCCCATCGCAAAAAGCTCTTGTGTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27241
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066050 | Nonsense | 232 | 393 | 10 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 35876733)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 34805157 |
| GRCz11 | 8 | 34739957 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTTGCAGACTGAATACAGTGCGCTGCGCTCCATAGTGGTGGCCAACTA[T/G]GAAGAAACTGTCAAAATGCCAATCAATGAACCAGCCATGGGAAAGCGCAA
Long Flanking Sequence:
TGGATTTGGAGATCCTCTACCATTCCTCCTTGCAGATCCTCTCCAGTTCTGTCAGGTTGGACGGTAAATGTTGGCAGGCAGCCAGGATTCTGCAGAGATACTCAATTGGGTTTAAGTCAGGGTTTTGCTGGGCCGTTCAAAAAGAGTTTATTTGCCAAAACAGATCATTCCTAATTTTTACATTTACATTTTCAGACGAAGATCAACATTGTATAAACATGATTTATGGAAATTACTGAAGGTGGACTGATTTATGTCCATAGGAGAATCTTGAGGGAACCAGCTGTAAATTAGTCTTCAGCTATTTATTTAGCACTGCTATTTACAGATATTCACTTGACACTTGCATTTTGCCAACTGCATCAGAATTAATTATATAATTTGTTTGTGTTTGTATGAAGGTATCAGAGGAACCTGCTGTTCCACAGATTCTGGTCAGTGGATGACAAGCAGTTGCAGACTGAATACAGTGCGCTGCGCTCCATAGTGGTGGCCAACTA[T/G]GAAGAAACTGTCAAAATGCCAATCAATGAACCAGCCATGGGAAAGCGCAAGTCTCAGATCCAGGCACGTATTACAAACATGACATCTGCTTACAGTCACCTCTTCATGCAGGGATCCATCCGTTCATCCGACCGTCTTTTTATCTTTTAGGAGTATGTGGAGTACTATGGTGGAGCGGGGGTTCAACACATCGCTATGAACACCTCTGACATTATTTCAGCTGTGAGTAAACTACAGACAGATTTCACACTAATGGATTCATTGAGAAGACCCTATTATTCTTAGTGTAAAACCATTTTAAAGAAACACTTTGAAAATAGGCATATTTCTAAGTCCCCTAGAGGTTAACAAATGAGTGAGTTTTACCATTTTTTAAATCCCATTCATCTGCATCATCAAGCATTTTTAGCTTAAATTGCATAAATCATTTAATCGAATTAGGCCATTAGCATCTTGCTAAAAAACATATTTAAAAAAAGGGTTTCAATAATTTTCCTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21339
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066050 | Essential Splice Site | 277 | 393 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 35876956)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 34805380 |
| GRCz11 | 8 | 34740180 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCGGGGGTTCAACACATCGCTATGAACACCTCTGACATTATTTCAGCT[G/T]TGAGTAAACTACAGACAGATTTCACACTAATGGATTCATTGAGAAGACCC
Long Flanking Sequence:
TTATGGAAATTACTGAAGGTGGACTGATTTATGTCCATAGGAGAATCTTGAGGGAACCAGCTGTAAATTAGTCTTCAGCTATTTATTTAGCACTGCTATTTACAGATATTCACTTGACACTTGCATTTTGCCAACTGCATCAGAATTAATTATATAATTTGTTTGTGTTTGTATGAAGGTATCAGAGGAACCTGCTGTTCCACAGATTCTGGTCAGTGGATGACAAGCAGTTGCAGACTGAATACAGTGCGCTGCGCTCCATAGTGGTGGCCAACTATGAAGAAACTGTCAAAATGCCAATCAATGAACCAGCCATGGGAAAGCGCAAGTCTCAGATCCAGGCACGTATTACAAACATGACATCTGCTTACAGTCACCTCTTCATGCAGGGATCCATCCGTTCATCCGACCGTCTTTTTATCTTTTAGGAGTATGTGGAGTACTATGGTGGAGCGGGGGTTCAACACATCGCTATGAACACCTCTGACATTATTTCAGCT[G/T]TGAGTAAACTACAGACAGATTTCACACTAATGGATTCATTGAGAAGACCCTATTATTCTTAGTGTAAAACCATTTTAAAGAAACACTTTGAAAATAGGCATATTTCTAAGTCCCCTAGAGGTTAACAAATGAGTGAGTTTTACCATTTTTTAAATCCCATTCATCTGCATCATCAAGCATTTTTAGCTTAAATTGCATAAATCATTTAATCGAATTAGGCCATTAGCATCTTGCTAAAAAACATATTTAAAAAAAGGGTTTCAATAATTTTCCTGTAGGGGTTTCCAATAATTTTAATTCAGCCGACAAAATGATATTTCTCAGCACTATTACCTAGTTAACAACCTGGGGACTATTTTCAGTTACTGCATAAAATCATTGCACCTGCTGCAGCCATGATACGGTGGCCTTTTTATTCTACCTATCAGATTATGCTACCAACACTGTATTTGAATGGCTCTGAGGTTGGGATTAGGGATTAGGTAGGTTAGGGCAACTTC
Associated Phenotype:
Not determined