ZMP
pmm2
Ensembl ID:
ZFIN ID:
Description:
phosphomannomutase 2 [Source:RefSeq peptide;Acc:NP_956378]
Human Orthologue:
PMM2
Human Description:
phosphomannomutase 2 [Source:HGNC Symbol;Acc:9115]
Mouse Orthologue:
Pmm2
Mouse Description:
phosphomannomutase 2 Gene [Source:MGI Symbol;Acc:MGI:1859214]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10150 | Essential Splice Site | Available for shipment | Available now |
| sa19432 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10150
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 |
|---|---|---|---|---|---|
| ENSDART00000054848 | Essential Splice Site | 152 | 250 | 5 | 8 |
| ENSDART00000054848 | Essential Splice Site | 152 | 250 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 1 (position 8941527)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 9181332 |
| GRCz11 | 1 | 9865443 |
KASP Assay ID:
2259-0209.1 (used for ordering genotyping assays)
KASP Sequence:
GTCGAAGCTGCAGCCAACAGGAAAGAATCGAATTCTTTGAACTTGATAAG[G/A]TTGTTTGTTTTACACATGTATCAACACACAATGCCMTWATCTTCTYAAAG
Long Flanking Sequence:
TTTTTTTTTTTTAAATATACATCTATGAGGCAGCATGGTGGACCCCGCTGGGCCAGTTGGCATTTCTGTGTGGAGTTTGCATGGGTTTCCTCAGGGTGCAACTAAATTGGCCGTTGTGGATTAGTGCGCGAGTGTATGGGTGTTTCCCAGTACTGGTTGCAGCTGGAAATGCTTAAACGTATGCCAGAATAGTTGACGGTTCATTCCACTGTGGCGACTGCTGATAATTAAGGAAAATAAATTGATGAAATATAAATCTATATTCAATAGTTTTTGGATAAATTTGATGAAAGGTTCCAATTCAGAATGTGATTTTAATTTGCTGTACATTTATTTTATATACATAAACATTTGTAATAAATAGATAAACCACAATATTTATGTTATTATTACGTTTCAGAGGCACATTTATTGAATTTCGGAATGGAATGCTGAATGTCTCTCCGATCGGTCGAAGCTGCAGCCAACAGGAAAGAATCGAATTCTTTGAACTTGATAAG[G/A]TTGTTTGTTTTACACATGTATCAACACACAATGCCCTAATCTTCTTAAAGGATGCCATCTAAAGTTTAATTAAATGTATGTTTTTATGCAGAAGGAGAAGATTAGAGAAACATTTGTCTCCGTTTTAAAAGAAGAGTTTGCTGGGAAGGGACTAGCTTTCTCCATTGGTAAGAAACGAGTGTTAATGAATCTTTTAATGTGCCGTCAAATTATTTTTCTAAATAATACGAAGTTTGCACTGAATATATTTGACATAATACTGTCATTCTTACACTAAATTACAGACTGTGTTTTCTGTAAATCATGCTATAAATATATGAAAGTCATTATTTTACATGCATTTAATCTACATGAAAAAATGTAGCACTGCTACTTTCTTCCTTGAAATGATGCTTGTCTTTGACTCATGTATGTATTTTTCCCTGCAGGTGGACAGATCAGTTTTGATGTGTTTCCAGAAGGCTGGGATAAGCGCTACTGTTTGGGAATTGTGGAGAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19432
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054848 | Essential Splice Site | 178 | 250 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 1 (position 8941954)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 9181759 |
| GRCz11 | 1 | 9865870 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCCTTGAAATGATGCTTGTCTTTGACTCATGTATGTATTTTTCCCTGC[A/T]GGTGGACAGATCAGTTTTGATGTGTTTCCAGAAGGCTGGGATAAGCGCTA
Long Flanking Sequence:
AATGCTGAATGTCTCTCCGATCGGTCGAAGCTGCAGCCAACAGGAAAGAATCGAATTCTTTGAACTTGATAAGGTTGTTTGTTTTACACATGTATCAACACACAATGCCCTAATCTTCTTAAAGGATGCCATCTAAAGTTTAATTAAATGTATGTTTTTATGCAGAAGGAGAAGATTAGAGAAACATTTGTCTCCGTTTTAAAAGAAGAGTTTGCTGGGAAGGGACTAGCTTTCTCCATTGGTAAGAAACGAGTGTTAATGAATCTTTTAATGTGCCGTCAAATTATTTTTCTAAATAATACGAAGTTTGCACTGAATATATTTGACATAATACTGTCATTCTTACACTAAATTACAGACTGTGTTTTCTGTAAATCATGCTATAAATATATGAAAGTCATTATTTTACATGCATTTAATCTACATGAAAAAATGTAGCACTGCTACTTTCTTCCTTGAAATGATGCTTGTCTTTGACTCATGTATGTATTTTTCCCTGC[A/T]GGTGGACAGATCAGTTTTGATGTGTTTCCAGAAGGCTGGGATAAGCGCTACTGTTTGGGAATTGTGGAGAAAGACTCCTATCAGCACATCCATTTCTTTGGAGACAAAACAATGCCTGTGAGTCCAAGATGCAGTTTCGACTAATTCAAGTATTCATACACGTACTTCATTTACATACTGCACTATTCCAGACTAGCCTAATGTCAATATTTATCTTTAGCAAAAATTTTATTCTTGAGGTAAACAATTTAATTCACTAAAACCTCTTTTTATTTTGGTTATGTTTATTCAAAATCGAGTCATTTGCTTCCGTCCTGAAGTGACACTCCTCCTCTGATGAGTGAAATATGTTTAGCCACGCCCTTCCAACTACTACTATGCTGCGAAAGATGAGAGGAGGAGCATAAAACCCCGCCCCTACTCAATATTCAGTTTCAGATATAAATACGTCATCATACTAAAGCAAAAATCTGGATCAACTTCTAGTTCACGTAGACTCT
Associated Phenotype:
Not determined