ZMP
si:dkey-165i4.1
Ensembl ID:
ZFIN ID:
Description:
ataxin-2 [Source:RefSeq peptide;Acc:NP_001121821]
Human Orthologue:
ATXN2
Human Description:
ataxin 2 [Source:HGNC Symbol;Acc:10555]
Mouse Orthologue:
Atxn2
Mouse Description:
ataxin 2 Gene [Source:MGI Symbol;Acc:MGI:1277223]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa870 | Essential Splice Site | Available for shipment | Available now |
| sa16931 | Essential Splice Site | Available for shipment | Available now |
| sa33678 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa870
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083656 | Essential Splice Site | 95 | 1112 | 4 | 23 |
Genomic Location (Zv9):
Chromosome 5 (position 43324474)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 41105739 |
| GRCz11 | 5 | 41705892 |
KASP Assay ID:
554-0772.1 (used for ordering genotyping assays)
KASP Sequence:
TAAAAATGGCCTGATCTATGAAGGGGTTTTTAAAACATATGGCCCAGAGG[T/C]AAGGATACCACTTTGTATTGCTGATGTTAAGCATTTCTATCACTGTTAAG
Long Flanking Sequence:
TTTTGGGCCTTTATCGTAAGTTATTTTGTTAGATAAACTCCAGATTTGGCTTCAGTACTGACTAATGGCACAAATATAATATTGTATAGCTTCCTATTAAAATATGAACATAAAAGATAGATTTTTGAGGGGTGTACTTGTATATGCTGAGCACTGTATCAGCACATTGAAAGCTGCTCAGCCAATTAAAATATAGATACATGTAAATTGTATATCTCTTTACCTCAGGCAGAAATGTTGTTGATTGTTCTTTTTTAGGTGGCCTTCAATGGAGTTTATGCAAACATGAGGATGGTTCATGTTTTGACCTCAGTTGTGGTAAGTATAAATGCACAGCTGTAATTATGTTCTTTTTTTAATCAGTTTTACCAAAGCACAACAAATACACTCCTACTGAAATTTCGTTTTCTGGTTCACCACTCAACAGGGAACCAAATGTGAACTTAAGGTTAAAAATGGCCTGATCTATGAAGGGGTTTTTAAAACATATGGCCCAGAGG[T/C]AAGGATACCACTTTGTATTGCTGATGTTAAGCATTTCTATCACTGTTAAGCACAAGAAAAATGTAATTCTAGTTCGGAGATATGTGACATATGTCCATTTTTTTATTGTCGTGGGCTCTTCATTTGCAGTGTGATATTGTCTTGGATGCTGCACACAGGAAGAGTGTAGAACCTAATGCGGGCCCTCGCCGTGAGGATATTGTGGAGAGCATCATCTTCAAGTCCTCAGATGTAGTGGTAGTTCATTTCAAAGATGTGGACCTCAACTATGCCAAGAAAGGTGAGACCTTCTGTCAAATATTCTTGTTACTTTAATAGGTGTTTTACAGGTTTGAGCTCTGTGAAGTTACAATGTAGATATAGTGTAGCTAAACGGTGTTATACTAATTGCAAGTTGCGGAGGAAGATGATCAGTTCACTAATATCACAATTAGTGCCTACATTGTTTTGAAGGGTTAACATTACACCATGGATTGTATTAGCCAATAAATAAGAACAAA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa16931
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083656 | Essential Splice Site | 146 | 1112 | 5 | 23 |
Genomic Location (Zv9):
Chromosome 5 (position 43324192)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 41105457 |
| GRCz11 | 5 | 41705610 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTAGTRGTARTTCATTTCAAAGATGTGGAYCTCAACTATGCCAAGAAAGG[T/C]GAGAYCTTCTGTCAAATATTCTTGYTACTTTAATRGGYGTTTTACAGGTT
Long Flanking Sequence:
AACATGAGGATGGTTCATGTTTTGACCTCAGTTGTGGTAAGTATAAATGCACAGCTGTAATTATGTTCTTTTTTTAATCAGTTTTACCAAAGCACAACAAATACACTCCTACTGAAATTTCGTTTTCTGGTTCACCACTCAACAGGGAACCAAATGTGAACTTAAGGTTAAAAATGGCCTGATCTATGAAGGGGTTTTTAAAACATATGGCCCAGAGGTAAGGATACCACTTTGTATTGCTGATGTTAAGCATTTCTATCACTGTTAAGCACAAGAAAAATGTAATTCTAGTTCGGAGATATGTGACATATGTCCATTTTTTTATTGTCGTGGGCTCTTCATTTGCAGTGTGATATTGTCTTGGATGCTGCACACAGGAAGAGTGTAGAACCTAATGCGGGCCCTCGCCGTGAGGATATTGTGGAGAGCATCATCTTCAAGTCCTCAGATGTAGTGGTAGTTCATTTCAAAGATGTGGACCTCAACTATGCCAAGAAAGG[T/C]GAGACCTTCTGTCAAATATTCTTGTTACTTTAATAGGTGTTTTACAGGTTTGAGCTCTGTGAAGTTACAATGTAGATATAGTGTAGCTAAACGGTGTTATACTAATTGCAAGTTGCGGAGGAAGATGATCAGTTCACTAATATCACAATTAGTGCCTACATTGTTTTGAAGGGTTAACATTACACCATGGATTGTATTAGCCAATAAATAAGAACAAACAACAGAACGTTTTTTCTCGTGCAATTCATTTTCTATGACTATCTTACTATTATCACTCAATATCGAATAAAATAATTCTATTAGTTATAACTCCCATGATGGCCAGGGTTTTTTAAGAATTGGTTGATTAAAAAGGTCAATTCAGTGTCTTCTTTCATTTTTATGTGATTATTTCAGTGTAACATCTATACCATTTAGAATTTGTGATGGACGTTATGAATATTCAGACAAATTTGCTGCATCTAAAATGGCACACCTTTCTGTTATAGCTGGATAGTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33678
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 |
|---|---|---|---|---|---|
| ENSDART00000083656 | Essential Splice Site | 923 | 1112 | 20 | 23 |
Genomic Location (Zv9):
Chromosome 5 (position 43271715)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 41052980 |
| GRCz11 | 5 | 41653133 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAAGAACTTCCCCAGCACAATGACTAAGCTCAACAAGCCCACATACAGT[G/A]TCACTGCTATGTATTGCTTTTCTTTTCGATAAATAACTCAACTCTACAGC
Long Flanking Sequence:
AAATTTTATATCTGTCTACAAAGAAAATGAAATGATTTGAACCAACGATATTTGAAGAGTTCAGATGCAAAAACCTGTGCCGTCTGAAATTTCTATTCAAAATTAAAATTTTTCTCAGCCTTCTTTTGTTTATGTGGAGTTATTTTACTTTGAAGAGCAGGAAAATAACTTAATCTTTCCCATAAATGTGGTATTACTAATTACTAAAATAAATAAAAACACTCATTTTAGAGCAAAATCTGAGTTTGCGTTTAAACTCTTCATTTATAAACAAGAAAAGTGATGATGATCATTAATAGGATGTTGGCTTGATGTGTGTCCAGGCTCAGCATGTGTTCAGTCCAGTGATTCAGGGCAGTGCGAGGATGATCACCCCTCCTACTCACGCTCAGCCCAGCCTGGTCTCTTCCTCCACCACTCAGTATGGTGAGCAGACGCATACTATGTATGGTAAGAACTTCCCCAGCACAATGACTAAGCTCAACAAGCCCACATACAGT[G/A]TCACTGCTATGTATTGCTTTTCTTTTCGATAAATAACTCAACTCTACAGCAGTTAATGTTGGTCTTTCTAATGAGCCTCGCACACTATTTAAAATAAGGTGATCTTTTACAGGGCTCACAAAATTTCTAAATTCCTGGTAGCGCTTCGGACAGACACTCTTACGTTTTTGGTAGCCCAAATAGAAAATACATTATTTAATGAATAAAACCAAAAACATACACTTACTAAATAAAAAAGATAAAATGACATTTCTTATCGGCTGTATATTATTTTTTAAATAACCAAAAAAAGATGTTAAGTGAACATTGTTTTATGTATGTATGATAAAATGTTTCCTTGTGGTTATTTTTGATTATTTCTATAACTAACTTATTGCTACCTGTAAAATCTGAATGATTTTAGCTCTGAAGTAGAAACGACACAAATACATATTTTACCCAAACTGGAAAATTGTGTCATTATTTTCTCACCCTTCACTCACTTCAGACCTGTTAGTTTC
Associated Phenotype:
Not determined