ZMP
PYGL
Ensembl ID:
Description:
phosphorylase, glycogen, liver [Source:HGNC Symbol;Acc:9725]
Human Orthologue:
PYGL
Human Description:
phosphorylase, glycogen, liver [Source:HGNC Symbol;Acc:9725]
Mouse Orthologue:
Pygl
Mouse Description:
liver glycogen phosphorylase Gene [Source:MGI Symbol;Acc:MGI:97829]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16886 | Nonsense | Available for shipment | Available now |
sa12138 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16886
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023449 | Nonsense | 161 | 965 | 4 | 31 |
Genomic Location (Zv9):
Chromosome 13 (position 37263010)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 36735312 |
GRCz11 | 13 | 36861144 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCTAGACTCAATGGCRACTCTGGGTCTGGCAGCCTATGGATATGGGATA[C/T]GATATGAATATGGAATATTCAACCAGAAGATTAAAGATGGCWGGCAGGTG
Long Flanking Sequence:
TTAAACTAAATGTAGACAATCTACTATGCAAAATCCTGGAAATCTCCATTTCTCACTAGAAAGTTGTTTTTCCCTCTGTGTGCTTCAGCGTGTTTATTACCTCTCACTGGAGTTCTACATGGGTCGCACGCTCCAGAACACCATGATCAATCTGGGTCTGCAGAACGCCTGTGATGAGGCCATCTATCAGGTCAGGGAACACAAAAACACTCATTTGTCTGTGCGTCTGTTTGCCTATCAGTCTGTAATCCTCTTGTTCTCCTTCCAGCTGGGCTTGGACATGGAGGATCTGGAGGAGATGGAAGAAGATGCTGGATTAGGCAATGGAGGCCTGGGCAGATTAGCAGGTCTCACTTTCTCTCTCTCTGAAATACACTGAACAAATAATATCATGATACAAGTTATATTGAAATTTATTTATGTGTGTGTGTGTGTGATTCACAGCATGTTTTCTAGACTCAATGGCGACTCTGGGTCTGGCAGCCTATGGATATGGGATA[C/T]GATATGAATATGGAATATTCAACCAGAAGATTAAAGATGGCTGGCAGGTGAATAAGATGGCTGACCGAATTAGCCAAATTTCCTGAATATTTGTAAACGTTGGTGACCTGATACTGATATTTAGAGTAATTCTGACCTATATTCCACAAATATTTATTTAAGAATACACAAAAAAAGAGATGAAATATATTTAAATACTTTGTTACATAAAATTTTATATTAATTATAATTATCAGAATTAATCTCCTATTATATATTATATTATATTATTATATATTATATTATATATTATAATTATAATTAAAGCATATCCCATAATGCAACAAATTGCTTAAATTTATTGATAATAGAGATTTTAAAATATATTAGCACAAATACAGTTGAATTATTAGCTCCCCTATATATTTATTATTATTATATGTTATTATAAATTTTTGAGTTACTTGAGTTTTACGTGATTCATATTGCATTTACATATATGTGACCTAGTTTGCAGTGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12138
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023449 | Nonsense | 387 | 965 | 10 | 31 |
Genomic Location (Zv9):
Chromosome 13 (position 37256148)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 36728450 |
GRCz11 | 13 | 36854282 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACRTTTGCYTACACAAACCACACGGTTCTGCCAGAGGCTCTGGAACGCTG[G/A]CCAGTTGATCTGATGGAGAAACTCTTACCGCGACACCTGCAGATCATATA
Long Flanking Sequence:
GAATCGAATATTAAAATTAATGTAGAATAGGACATAACTCAGCAGCCCCTCAGCATAAGTCAAATTGAAATATTTTGGTTGTAAAAACACACTTTCGGTTACCAAAACTTGCAAATTGGTCAAGCAACGAGTAACCATAATAACAAACAAACATCCAAGGAAACATAGGAAATGCACAAAACAAATTACTGACAAAGTCTGCAAAGCAAAACTGAAACCAAACTGGCTCACTGTAAAAAGCAGTAGCCTCTTTTTTTAAATTTATTTATTATTTATTTTTAATAAAGTTATTTAAGCTTAAAATGAGTACTGTATGGGTATAAATGAAATCTATTTAGTTTAATTGAATGATGCAGATTTTTAACAGTATGTTAGCTTTGTGAAGGCGACATGATTCCTGAAAATAAGTTGCTCTGTGTGAGTGTCTAGGCCTGGGATATCACCAAGCGAACGTTTGCTTACACAAACCACACGGTTCTGCCAGAGGCTCTGGAACGCTG[G/A]CCAGTTGATCTGATGGAGAAACTCTTACCGCGACACCTGCAGATCATATACAAGATCAACCTAATACACCTGAATGTGAGTACACTTACTTGTCCAACTTAAAGCAGCTATAAAGTTCCCACTGTCAGCTTTAGTTTTACAAAAGTGCTGTTTTTTATTTATTTTTTCTTAAATAATAGCCATGTTAATAATGGATTTTAAATTTTTTCACTTTTCATGTGCCTTAGACTTCTGTTGTTTCTTTATGAATTCCATGTCCAAAGAGCACCCCTTAATTACCCATATTTATCAGGTTTAGTTTACTTTGACCCCAAAGTGCACATAAATCCACATACTGTACACTAGAAAACCTAGTAGACCCCAATATTGTATGCATGTTTTTTGTGTTTGCCTGAGTGTTTGAATGTGTATTTTCTTGTCTGTGTGTGTAGCATATAGCGTCTCTGTTTCCAGAGGATATGGACCGAATCCGCAGGATGTCTCTGATCGAGGAAGGAGGA
Associated Phenotype:
Not determined