ZMP
pax7b
Ensembl ID:
Description:
paired box gene 7b [Source:RefSeq peptide;Acc:NP_001139621]
Human Orthologue:
PAX7
Human Description:
paired box 7 [Source:HGNC Symbol;Acc:8621]
Mouse Orthologue:
Pax7
Mouse Description:
paired box gene 7 Gene [Source:MGI Symbol;Acc:MGI:97491]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15267 | Essential Splice Site | Available for shipment | Available now |
| sa16225 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15267
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000097138 | None | None | 280 | None | 7 |
| ENSDART00000104288 | Essential Splice Site | 266 | 395 | 7 | 9 |
| ENSDART00000129992 | Essential Splice Site | 269 | 510 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 23 (position 21191118)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 20975781 |
| GRCz11 | 23 | 20902332 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTGTATTTGCTTATTAATATTAAATTAATATATTTTTCCTCTAAATGTC[A/G]GGTTTGRTTCAGCAATCGTCGAGCCAGGTGGCGCAAACAAGCTGGAGYAA
Long Flanking Sequence:
AAATAAATGGCAAATAGAGCACTGAATTAATTGCAACATTTTGTATTTTACAAGTATATTTGTTCTTGTAAAATTTGCTTAAATAAGTGATCATGTTTTTCAACATAAGAAACAGCAACGACATATGTCTGAAATGAAATGTTTCTTTTTAATATATCTTTTAATAAGTTAAAATTTATTTTTTATTTTAAATAGTACTTTTTTCATTTTATTTGAAGTAAAACTTAAAGCAACCTGTTCCTTAATCACACACATTTTTAAAGAAATATTTATCCATTATTAAAAAATGACTTTAATAATACTGTTATACTTAATATCTTTTTAGCACACAGATTATTATCATAATTTTTTAAGTGTTTTAATGTTGATTTCTCTTTCAGTAATCAAGTAAAATTAATCTATAATATTGGTCATTTATCACTTATAAGACATTAAAATAATAATCACCTCATTGTATTTGCTTATTAATATTAAATTAATATATTTTTCCTCTAAATGTC[A/G]GGTTTGGTTCAGCAATCGTCGAGCCAGGTGGCGCAAACAAGCTGGAGCAAATCAACTTGCAGCATTTAACCATCTGTTACCTGGAGGATTTCCACCCACCGGCATGCCCACTCTACCAACATACCAGCTTCCAGAGTCCAGCTATCCTACTACAACATTACCACAAGGTGAGCCAACTAATGTTTTTCTGACTATACTAAACCCCAAAAACAGTAATAGCAATAGCGTGGAAGCTGCTATGATGCATTTTGCGAGTGGTTTTCAAAAACATCTAACTGTTCTTCCAGACGTCAGTGGCACTGTGCACCGACCTCAGCCTTTGCCCCCCTCTACCATGCATCAGGGCGGGCTCTCGAGCGACAGTAGCTCCGCCTACGGCCTTTCGTCCAATCGACACAGTTTCTCCAGCTACACCGACACCTTCATGAGCCAATCAGCGTCCAGCAATCACATGAACCCTGTGAGCAATGGACTCTCTCCGCAGGTCAGTAAGGGTCACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16225
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 |
|---|---|---|---|---|---|
| ENSDART00000097138 | None | None | 280 | None | 7 |
| ENSDART00000104288 | Nonsense | 267 | 395 | 7 | 9 |
| ENSDART00000129992 | Nonsense | 270 | 510 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 23 (position 21191125)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 20975788 |
| GRCz11 | 23 | 20902339 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGCTTATTAATATTAAATTAATATATTTTTCCTCTAAATGTCRGGTTTG[G/A]TTCAGCAATCGTCGAGCCAGGTGGCGCAAACAAGCTGGAGYAAATCAACT
Long Flanking Sequence:
TGGCAAATAGAGCACTGAATTAATTGCAACATTTTGTATTTTACAAGTATATTTGTTCTTGTAAAATTTGCTTAAATAAGTGATCATGTTTTTCAACATAAGAAACAGCAACGACATATGTCTGAAATGAAATGTTTCTTTTTAATATATCTTTTAATAAGTTAAAATTTATTTTTTATTTTAAATAGTACTTTTTTCATTTTATTTGAAGTAAAACTTAAAGCAACCTGTTCCTTAATCACACACATTTTTAAAGAAATATTTATCCATTATTAAAAAATGACTTTAATAATACTGTTATACTTAATATCTTTTTAGCACACAGATTATTATCATAATTTTTTAAGTGTTTTAATGTTGATTTCTCTTTCAGTAATCAAGTAAAATTAATCTATAATATTGGTCATTTATCACTTATAAGACATTAAAATAATAATCACCTCATTGTATTTGCTTATTAATATTAAATTAATATATTTTTCCTCTAAATGTCAGGTTTG[G/A]TTCAGCAATCGTCGAGCCAGGTGGCGCAAACAAGCTGGAGCAAATCAACTTGCAGCATTTAACCATCTGTTACCTGGAGGATTTCCACCCACCGGCATGCCCACTCTACCAACATACCAGCTTCCAGAGTCCAGCTATCCTACTACAACATTACCACAAGGTGAGCCAACTAATGTTTTTCTGACTATACTAAACCCCAAAAACAGTAATAGCAATAGCGTGGAAGCTGCTATGATGCATTTTGCGAGTGGTTTTCAAAAACATCTAACTGTTCTTCCAGACGTCAGTGGCACTGTGCACCGACCTCAGCCTTTGCCCCCCTCTACCATGCATCAGGGCGGGCTCTCGAGCGACAGTAGCTCCGCCTACGGCCTTTCGTCCAATCGACACAGTTTCTCCAGCTACACCGACACCTTCATGAGCCAATCAGCGTCCAGCAATCACATGAACCCTGTGAGCAATGGACTCTCTCCGCAGGTCAGTAAGGGTCACTGGCCACA
Associated Phenotype:
Not determined