ZMP
upp1
Ensembl ID:
ZFIN ID:
Description:
uridine phosphorylase 1 [Source:RefSeq peptide;Acc:NP_001013319]
Human Orthologue:
UPP1
Human Description:
uridine phosphorylase 1 [Source:HGNC Symbol;Acc:12576]
Mouse Orthologue:
Upp1
Mouse Description:
uridine phosphorylase 1 Gene [Source:MGI Symbol;Acc:MGI:1097668]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17434 | Essential Splice Site | Available for shipment | Available now |
| sa36076 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa22791 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17434
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059905 | Essential Splice Site | 13 | 233 | 2 | 6 |
| ENSDART00000103814 | Essential Splice Site | 21 | 315 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 16 (position 18263094)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 16304331 |
| GRCz11 | 16 | 16212308 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGAAAACAGAAAATGCCGCTGGGTGAAGAGAAAAACGGAAAATGCGACGG[G/A]TAWGTAAAAAATCTGTCTTTTCCTCAAWGTGAATGGACCTTCAGTCCTTC
Long Flanking Sequence:
AATAGCCGGCTTTTGCGTATTGTTAATGACGTCAGTACTCGCACGCACACTGGTATCCAGCCTATAGAAATAATTCTCCACCCCGTCGGTATGATGGACTTCTCAACAATCCAATCTGCTACTTGTATTAGCCTGTTTTTTTCCGCTGGAGGCGGGGTTTGTGAAAAACACACGAAGCTCGTGTAGCGCTGTCACGTTCACGTAGACCAGAGCACTGTGCCGGATGTTTCACACACCGCAGCAGCAGCAACTGACCGACACCGACGATTTTTAATCAAGCAACCCTGCTAGTGGACACTAAATCAACCGGTCATAAACCACAATCACACGGTAATGAACACTTCTCACTGGAGTGCTTTCTATCAAACTAATTGTCTGACAAAAGTTGTGCATGGGTTAAGGTTTTTTTTTTTAGCGTCGAATAGTCAGTGTCTGTTGATGTGCCATTCAGGAAAACAGAAAATGCCGCTGGGTGAAGAGAAAAACGGAAAATGCGACGG[G/A]TATGTAAAAAATCTGTCTTTTCCTCAATGTGAATGGACCTTCAGTCCTTCCGTTTGGTATGTCATTCAGTAATGTATTAAAATACTTTATATAGATAGGTTACGCAACTCAAAGCATTGTAAAGCACAGTGCCTAGATGACACTTGACATTTTGATGCAATTTAGTTTCATCAGCATGAGTTATTTTCACTCTTGTGAGAAACGACAAAAAAAAAAAAAAAAAAAAAAAATTGTTTCTCACAGTGCCCTTTTCCTGACCCTTGGGTTACACATACAGTACAGTAGTGATGAATATTACATTATGGTGTGTGGTTAAAGAAGTGTTACTTCATGTTGTCGCAATACATTAACCACAATAACCAACAGTTAACCTGTTTTATATCATTTATATTATATATAACACATTTTCAATGCACAGGTCAATATATGTAAACAATCCACACTTGGACTCTATGACAGATGACATTCTTTACCATTTTAACTTGGGAACATCCACTCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36076
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:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059905 | Nonsense | 59 | 233 | 4 | 6 |
| ENSDART00000103814 | Nonsense | 67 | 315 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 16 (position 18262448)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 16303685 |
| GRCz11 | 16 | 16211662 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTGGATGTACGTTTTGTCTCAGTTTGTGTGTGTAGGGGGAAGTCCATG[G/A]AGGATGAAATCTTTCACTGAATACATTGCCAAAGAACTGGGACTGGTGGA
Long Flanking Sequence:
GACATTTTGATGCAATTTAGTTTCATCAGCATGAGTTATTTTCACTCTTGTGAGAAACGACAAAAAAAAAAAAAAAAAAAAAAAATTGTTTCTCACAGTGCCCTTTTCCTGACCCTTGGGTTACACATACAGTACAGTAGTGATGAATATTACATTATGGTGTGTGGTTAAAGAAGTGTTACTTCATGTTGTCGCAATACATTAACCACAATAACCAACAGTTAACCTGTTTTATATCATTTATATTATATATAACACATTTTCAATGCACAGGTCAATATATGTAAACAATCCACACTTGGACTCTATGACAGATGACATTCTTTACCATTTTAACTTGGGAACATCCACTCATGATTTGCCAAAGATGTTTGGGGATGTCAAAGTAAGTTTCACTTCCTTTTCATGCTCTGTAATCCTGAAATGTGTCTCATCAAGAGTCTCTGTTTAACTTGGATGTACGTTTTGTCTCAGTTTGTGTGTGTAGGGGGAAGTCCATG[G/A]AGGATGAAATCTTTCACTGAATACATTGCCAAAGAACTGGGACTGGTGGACCCCAATGCAGAATACCCAAATATATGTGCAGGAACTGATCGTTATGCCATGTACAAAGTGGGACCTGTGTTGTCTGTCAGTGTGAGTGAACTCTCCACATGCACATTTACCATACATTTGGAGTTACAAATGCTTTTTATTTAGAAATGGATTAAGCCGTTTTATTTGTATTAAAATATTGTTCCTTTTGAACTTCGTAGTAATCAAAACATACTAAAGAAGTTTGTCATTATTATAAAAACTAATATAAGAGGTGTATAATGCTTAAAATAAATGTTTATGAAGCAGCAAATCAGCAGATTAGAATGATTAATGAAGGATCACTGTCTCTAGGTTTGTTTACATATGTTAATTTTCCTCAGCTGGAATGGGTTAAATCAGAATTCAGGTTCAGAAGTTTATATATTAAAACAGAAACAATTACCATTCAAATATGTTTTTTTATGAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22791
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059905 | None | None | 233 | None | 6 |
| ENSDART00000103814 | Nonsense | 239 | 315 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 16 (position 18256131)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 16297368 |
| GRCz11 | 16 | 16205345 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGCTGGATGGTGCCTTCTGCTCATACAGTGAAGAAGATAAACAGAACTA[T/A]CTTGCTGAAGCCTATGCTGCTGGGGTTCGCAATATTGAGATGGAATCATC
Long Flanking Sequence:
ATATCAGTGAGATTTATACAAATGTTTTAAAAATAAGCTTTCTGCTCACAAAGACTGCATGTATTTATTCTTAAATGCAATAAAAACTGTTAAATTTTAAAATATTATTGCAGTTTTTAAGTGTTTTCTTACTTAACAGTTTCAGTTGTTATTTCTGTGATTCGGATCTTTATTTTCAGCATTATTACTCCTTCAGTAATAATGTGTTGTCTTCAGTGTGACATGATCCTGCAGAAATCAGTATAATATATTGATTTGCTGTTCTATTATGATAAACATATTTCCAGGGCAAACTCATTAATAATGATTCTTTCAGTGTTGATAGCTTGAAAACATTTTCCTGCTTCACAGTATTGTCTAAACTGTGATGCATGTAACTATTTTTATTATACTTTGAAAATAAATTCAGAATAACAGCATTTATTTATGTGTGTTTTTACAGGTCAAGCTCGGCTGGATGGTGCCTTCTGCTCATACAGTGAAGAAGATAAACAGAACTA[T/A]CTTGCTGAAGCCTATGCTGCTGGGGTTCGCAATATTGAGATGGAATCATCTGTGTTTGCTGCCATGTGCAAACTGAGCAATCTTCGAGGTATGTGTCTTCACATTAATCAGCAATTTTCTCTCATTTTCAGTAAATTCTGCTTTAGGTTAATACAGATGGGAACAAGTTTTCGCATTTGAAAGGCGTAGTACAGGTGATTTTTATTGCAGTTGATATGTGAAGGTTTTACTAGTTTAACCTAAGTTTTACTTTGTCACACATTAAGCCTGTAGATGGATGATGTTTATTGTGGATGAGGTCATGTGGCAGTAAGAAGAACTTTTTTTTCCTGTTTTTCCAGCTGCGGTTGTGTGTGTGACACTGCTAGACAGGCAGAAAGGAGATCAGCTGACCAGCTCTCATGAAGTCCTGAATAACTACCAGCAGAGACCACAAGCCCTGGTTGGACATTACATCAAAAAGAAGCTAAACATCTCTAAGAAAAGCTAGTTCGCAAAAT
Associated Phenotype:
Not determined