ZMP
PTS
Ensembl ID:
Description:
6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:9689]
Human Orthologue:
PTS
Human Description:
6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:9689]
Mouse Orthologue:
Pts
Mouse Description:
6-pyruvoyl-tetrahydropterin synthase Gene [Source:MGI Symbol;Acc:MGI:1338783]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa8451 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa8451
Status:
Mutation detected in F1 DNA
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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 |
|---|---|---|---|---|---|
| ENSDART00000066579 | Essential Splice Site | 55 | 143 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 12 (position 325428)
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATCAGTGTCTCTCTTATGTCGTGMAAGAGCTCAAGTAAATCTCTTCATA[T/A]GCTTCATTTCTGTTCTANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
Long Flanking Sequence:
TTTTTAAATGTTGGAAACAAGGAGAAACTTTAACAAATCTAAACACTGAATTTACTAAAACATGATCTTTGTTACTGCTTATTTTTAGTCATTGATTTATTATTATTATTATTATTTTTATTATTATTATTATTATTATTATTATTATTAGCCCTATGAAATTATTTTTTTTTTTTTCATATATTTTGCAAGTGATCTTTAACAGATCATGTCGGTTTTCAGAGTATTTCCTATGTTTAGTTTGGCTGGAATGTGATGCATTGCTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTAATGCATTTATTGGATGTATTTCAGTAAATGTTTGAGTGATGAGGAGAATAAGAGAACGTTTGGGAAATGCAACAATCCTAATGGTCATGGCCATAACTATACAGGCGAGTTATTAAATATGTGCTATTAATTATGATCGCATTATCAGTGTCTCTCTTATGTCGTGCAAGAGCTCAAGTAAATCTCTTCATA[T/A]GCTTCATTTCTGTTCTANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACACACTGTATAGAAAAATATACTTTTTAGAAGGGAAAATAGAATGTTTTTAAATGAAATGAGTCATTTTTTTTACACGTAACATATTTATTAATTAACAAATTATACCATGAATTGATTTTTGGCTATCAAAATAATAAGCATATTGAATCTATTTAATAAATTAAATGTAATAATAATACTATTATTAATATTAACTATTATTAATATTACTATTATCAATAACTAATTCATAAAGGGTGACATGGTGGCTCAGTGGTTAGCACTGTGGCCTCACAGCAAGAAGGTCTCTGGTTTGAGTCTCGGCTGGGTCAGTTGGTGTT
Associated Phenotype:
Not determined