ZMP
pygma
Ensembl ID:
ZFIN ID:
Description:
glycogen phosphorylase, muscle form [Source:RefSeq peptide;Acc:NP_001018464]
Human Orthologue:
PYGM
Human Description:
phosphorylase, glycogen, muscle [Source:HGNC Symbol;Acc:9726]
Mouse Orthologue:
Pygm
Mouse Description:
muscle glycogen phosphorylase Gene [Source:MGI Symbol;Acc:MGI:97830]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31059 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa39334 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa31059
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077871 | Nonsense | 75 | 842 | 1 | 20 |
Genomic Location (Zv9):
Chromosome 21 (position 27839737)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 28408648 |
| GRCz11 | 21 | 28445343 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGTCAGAGACCACTTGGTAGGCAGATGGATCAGAACACAGCAGAGTTA[T/A]TACGAGAAAGACCCCAAAGTAAGTTCATGCATGTCGAGCTAAAGCAAAAG
Long Flanking Sequence:
AAGGATTTTTTAAAGAAATGTACACTTCCAATATATATATATATATATATTTCGCACCTACGTAAAAAAAGAAACACCATTTCCTCTTGTATAATCGCGTTAACTACTTGTTATATAAGCGTAATAGGTGTGGAGCTGCAGGTCGACCCCGCCCCGTCATTAATATTCATGAGGGTAACTTTAAATAGGCAGAGCCGTCAGCGGAGAATGGGGTGCTTCTGTGTGCGGTCTGGTGTTAAACCACTTACCTGAACCAAAGACGAGTCTGCTGTCACCATGTCCAAACCACTGTCAGACCACGACAGGAAGAAGCAGATTTCTGTGAGGGGGCTCGCCGGTGTGGAGAATGTGGCAGACTTAAAGACAAACTTCAATCGCCACCTGCATTTCACGCTGGTGAAGGACAGGAACGTTTCAACCAAACGGGATTATTATTTTGCGCTCGCGCACACAGTCAGAGACCACTTGGTAGGCAGATGGATCAGAACACAGCAGAGTTA[T/A]TACGAGAAAGACCCCAAAGTAAGTTCATGCATGTCGAGCTAAAGCAAAAGCAAGTCCATGCATGACACTGCATCATAACAGACAAGGGCGGATTTGGTGATTTGGGGGCCCTAAGCTATTCCAGCCATGGGGCCTGAAAGTTCTAAAATGCACTTTTTGAACTTTAATTTATTCATAATTGATTTATTTGGCAGTTTTTATTCTTATATCACTTTTATAATGTCCATTTTTACGTTTTGTATTAATGCAAAATAATAATTACAAACATTTAAAGCATCTTGTAATACATTTAAATGATTTGTTTTCTTAAAATGGATTCACAACTATAAATGATATAACTAAAACGAAATCTTTACCTGATTTGACTGCTGGACTGCTCCATGATTGAGGGTGGGGGACACATTTGTGCATTTGCAATTTAATAAACAAACTTATTTGTTTTTAGATCCTCATCATACAAAATATGATAGAAAATGATGTTATATATAATTTATAGGTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39334
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077871 | Essential Splice Site | 657 | 842 | 17 | 20 |
Genomic Location (Zv9):
Chromosome 21 (position 27863255)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 28432166 |
| GRCz11 | 21 | 28468861 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGAGTCATGCGATTGTGAAAAATATCCCTATGGTTGTCTTTTTCTCTCA[G/A]CGATCCCCGCGGCCGACCTGTCCGAGCAGATCTCCACAGCCGGCACAGAA
Long Flanking Sequence:
ATATTTAAAGGTTTTTATTTTCATAAACCGTGCGGATGTGAATGCGTCTGAATGTTCTGATTGACTGGCAATTTTCCTTCTGCGTTCACACAGAGAAGCATTCAGCAAATTACAGGTAATGTTACAAGTTCTCTTTTAGGAAAACTGATGGAACAAATTTATCAGTATTTTAAAAAAAGGCCTGTTCACACAGGTTCCCTTTGTTTGTTGCTGGTAGTTTTCTAGAAAGGGATGTATGTGTGAAAGGGTCTTGTGTTGTTCACTGTAGTGTCTGGTCAACTATAATCTATATTATATTATATGTAGTTATAATATAACTACATTGCAGATCCCTGCGTTGTGACTATTGGAGCCTCGCACATTGCAATATCGATGCTGAAACAGTATATTTTGCAGCTCTACTTATATTTATAACATGGTATGAATGTGCTTTAGCCTACCTTATATAATGCGAGTCATGCGATTGTGAAAAATATCCCTATGGTTGTCTTTTTCTCTCA[G/A]CGATCCCCGCGGCCGACCTGTCCGAGCAGATCTCCACAGCCGGCACAGAAGCTTCTGGAACAGGCAACATGAAGTTCATGCTAAACGGAGCTCTGACCATCGGCACTATGGATGGAGCCAATGTAGAGATGGCAGAGGAAGCAGGAGAAGAAAATTTCTTCATCTTCGGCATGAGAGTGGAGGATGTCGAGGCCATGGATGTTAAAGGGTTAGAGACAAAAACACTTGTTATCAAACTCAATAAAATCAAATAATATTATAGAGCCATTGGTCACATTTTACTTTGGGGACCATTCACACTATTAACTAGCTGTTGATTAGGTGTGCCTCAAATACATGTAGGTGTCGAGTAAGATTTTTAAGGAATGTGAATATGGTAATGTGAAATAAGGCATTATTCAGTATTATACCATGGGAATGTTAAACGTTTGATTGTGATTGTGGCTGATAGACATTCTAAAGTGGTGCAGGTATTCTTAAATAACTGCATGGCTAAAGTA
Associated Phenotype:
Not determined