ZMP
ATXN1L
Ensembl ID:
Description:
ataxin 1-like [Source:HGNC Symbol;Acc:33279]
Human Orthologue:
ATXN1L
Human Description:
ataxin 1-like [Source:HGNC Symbol;Acc:33279]
Mouse Orthologue:
Atxn1l
Mouse Description:
ataxin 1-like Gene [Source:MGI Symbol;Acc:MGI:3694797]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21147 | Essential Splice Site | Available for shipment | Available now |
| sa21146 | Essential Splice Site | Available for shipment | Available now |
| sa45303 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa21147
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 |
|---|---|---|---|---|---|
| ENSDART00000127351 | Essential Splice Site | 299 | 651 | 2 | 6 |
| ENSDART00000130304 | Essential Splice Site | 302 | 678 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 7 (position 72139594)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 69185441 |
| GRCz11 | 7 | 69422763 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGGAGAATGTCTCCTGGACAGAGCAGCACACCTGACACTGATCTCGAG[G/A]TAGGCTTATGTCAAGATCAGATTTTTTCATTGTGATTGTCAACCTCAGTG
Long Flanking Sequence:
CTCCGGGATTTGTTCCTAGTTCCCTGATACCACCTCAGTCTGGCATTTCGCAACCACATTTGGTTCCATATCCATCAGTTATTCAGGAAGGAGTGGTTTCGTCCCAACCGCAGCCGCAGGTGTCATCCCATGCATACACCAAAATGTTAGCACCTCTGGTTCTTTCCTCTGAGCAAGCTGCAACGCAAGTGCCAATCGGGACTGTAGGGATGCTCCCGACTGGAGAGCTCAGCCCGAGAGGCGTGCCTGTGTTTTACCACCCCGCCGTCAGAGGTGTGCAATCGCATAGCAGCTCCCTGGAGCAGGACCGGGAGGTGAATGGAGGAGACCGAGACCACGGCGGCAGGGAGAGTCATCAAGATGCAGTTTATTCGGCTAGAAGTGTGCGGCTGATGCAGACGACTGTGCTGGAGCCCCAGCAGGACAAGAGCTTGAAGAGCCGCAGGCCGGAGGGGAGAATGTCTCCTGGACAGAGCAGCACACCTGACACTGATCTCGAG[G/A]TAGGCTTATGTCAAGATCAGATTTTTTCATTGTGATTGTCAACCTCAGTGTTTCCCCGACCCTGTTCATGCAGCCACACCAACAGTACATATTTTGGATGTTTCCTTTACCTGATAAATTAACTTCAGGTTTTGGAGTCTCCTATGTTCTGATGAGTTGATTCAGGTGTTTGATGAGGGAGAGAGGTTGAAAATGTGTACCGCTGGTGTGCCTTCGGTAACAGGGTTGGGGAAACACTGGTCTACCTGAATAGGGTATATGCACAGCTAGTGTTTTTTCCCTCTACCGATACACCTCTGAAAGGTCTGTCAGGGGTGTCCACACTCAGTCCTGGAAGGCCAGTGTCCTGGTGAGTTTAGCTCACATCACAAGTTGGTTGGGTGATGTTGACCAATTTGGCATCGAATGATGTCTAATGGGGCGAGGCAGTGGCGCTGTAGGTAGTGCTGTCGTCTAACAGCAAGAAGGTCGCTGGGCTGCTGGTTCGAACCTCTGCTCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21146
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 |
|---|---|---|---|---|---|
| ENSDART00000127351 | Essential Splice Site | 416 | 651 | 5 | 6 |
| ENSDART00000130304 | None | None | 678 | None | 5 |
Genomic Location (Zv9):
Chromosome 7 (position 72133074)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 69178921 |
| GRCz11 | 7 | 69416243 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAACAGGGTCAGCAGGTGATTTCTGCCCCAGCTCCTGGTGCTTTTCCAC[A/T]AGCTCCTCTGCTAGCACCCACCGGCCCATCGCACTTCATGAAGGGCGCCA
Long Flanking Sequence:
CCTTGGTTTACAGTGCTTAAATAAAATGACACTTTAAATTTGGTTTCTTTTATAGGTCCAGCAGGTGGTTGGACGACTTGCCTCTCCCGTTCACGGCTCAAGCCGCAAGGATGCATCGCACGTTCCTCTGAACCTGTCTCAAAGCTCTCAGAGGAGTCGAGAGACTCAGGGTGAAATCAGAACAGCATATGCATTAAATCCTGCTGAATCCAGAGCTCATCAGCAGCAGATCGTTCAACAAGGCCATGCTGTGATCCTGGCCAACGGGCAGCCTGTTCTTGTACCATTGGATTATCATCACCACCATCAACAACAACAACAACCGCAGCAGCATCATTATCAACCCAATGATGTGGCTTCAGCAGCTATCGTTGCCTCCCCCGCCACATATACAAAAGCAATGGATGCAGCAGCTTGTCTCCCAGAGCGAGCAGTGGCAGAGCCGCCTCCCCAACAGGGTCAGCAGGTGATTTCTGCCCCAGCTCCTGGTGCTTTTCCAC[A/T]AGCTCCTCTGCTAGCACCCACCGGCCCATCGCACTTCATGAAGGGCGCCATTATCCAGTTGGCGACAGGAGAGCTTAAGCGTGTGGAAGATCTGCAGACTCAGGATTTCGTACGGAGCGCAGAAATGAGCGGCGGTCTAAAGATCGACTCTAGTATGGTGGTAGACATCCGTGCTAGTCAACAGCGTCCCGGCCTAGTGGCACTTCATTTCAATGTAGGGGAGCAGCAGAGCAAAGTGACTATAGATGTCCCCCCTGAACACCCGTTTTTCGTTTACGGACAGGGCTGGTCGTCTTGTAGCCCTGAGCGGACTGCGCAGCTGTATGGTCTCACTTGCCACCATTTGCAAGTGGGTGATGTTTGCGTGTCGGTGACTTTGCAGCAGCAAGCTGCTTCCCAGCAGAAACCACCACAGCAAGTGCAGGCCCGGACTCCCACCAAAGCCAACTCCACATCAGGAGCCACACCTCAGCCTATGGGCCCCCCTGCACCCCAGCACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45303
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000127351 | Essential Splice Site | 587 | 651 | 5 | 6 |
| ENSDART00000130304 | None | None | 678 | None | 5 |
Genomic Location (Zv9):
Chromosome 7 (position 72132557)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 69178404 |
| GRCz11 | 7 | 69415726 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCAGCCTATGGGCCCCCCTGCACCCCAGCACACACCTCGACCACAAAG[T/C]CACTTAAAGATCCACAGAGAGAGGGAACATAACAAGGAAGAGCCCATGCA
Long Flanking Sequence:
CCCACCGGCCCATCGCACTTCATGAAGGGCGCCATTATCCAGTTGGCGACAGGAGAGCTTAAGCGTGTGGAAGATCTGCAGACTCAGGATTTCGTACGGAGCGCAGAAATGAGCGGCGGTCTAAAGATCGACTCTAGTATGGTGGTAGACATCCGTGCTAGTCAACAGCGTCCCGGCCTAGTGGCACTTCATTTCAATGTAGGGGAGCAGCAGAGCAAAGTGACTATAGATGTCCCCCCTGAACACCCGTTTTTCGTTTACGGACAGGGCTGGTCGTCTTGTAGCCCTGAGCGGACTGCGCAGCTGTATGGTCTCACTTGCCACCATTTGCAAGTGGGTGATGTTTGCGTGTCGGTGACTTTGCAGCAGCAAGCTGCTTCCCAGCAGAAACCACCACAGCAAGTGCAGGCCCGGACTCCCACCAAAGCCAACTCCACATCAGGAGCCACACCTCAGCCTATGGGCCCCCCTGCACCCCAGCACACACCTCGACCACAAAG[T/C]CACTTAAAGATCCACAGAGAGAGGGAACATAACAAGGAAGAGCCCATGCAGATTGGAGGATCCCGACACATTGACATGCCCCCCAGACCCAACAGGACTTCAGCAGAGCACACGCATAGCCAGAGCAACTACTATTTGCACACGGAGGGTCATGCTCCTGGAGTGGGAGCCGCGTCCCAGAGGCGATGGTCTGCCCCTGGCTTCCAAAGATACAGCATCAAGAATGAGGATGGAAGATTAGTCTCCGCTGCCACCTCTGGCTCCTCTAGGCCATCGTTTATCCCTCAGGAGGTCAAACTATCCATTGAGGGACGCTCGAATGCCGGCAAGTAGCAGCCAACACAAAAAGAGATTGTCTATGGGAGCGAAGTGTCAGTGGGATTTGAAAGAGGGAGCATGGTTGAAGGGAGAGAGAATGTAGCCTCAGAATGTTTGAGATTTTGCACATATTGGAAGATTCCCCCTACTCTTCGGTTCTGGTCTCGAGTGGAGGACTTGTG
Associated Phenotype:
Not determined