ZMP
si:dkeyp-118h9.7
Ensembl ID:
ZFIN ID:
Description:
LOC555303 protein [Source:UniProtKB/TrEMBL;Acc:A5PLI5]
Human Orthologue:
SACS
Human Description:
spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]
Mouse Orthologue:
Sacs
Mouse Description:
sacsin Gene [Source:MGI Symbol;Acc:MGI:1354724]
Alleles
There are 11 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12817 | Nonsense | Available for shipment | Available now |
| sa15453 | Nonsense | Available for shipment | Available now |
| sa17059 | Nonsense | Available for shipment | Available now |
| sa16215 | Nonsense | Available for shipment | Available now |
| sa21411 | Nonsense | Available for shipment | Available now |
| sa21412 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12817
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 |
|---|---|---|---|---|---|
| ENSDART00000111547 | Nonsense | 177 | 605 | 5 | 5 |
| ENSDART00000114882 | Nonsense | 166 | 4234 | 4 | 7 |
| ENSDART00000111547 | Nonsense | 177 | 605 | 5 | 5 |
| ENSDART00000114882 | Nonsense | 166 | 4234 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 554825)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 569992 |
| GRCz11 | 9 | 569625 |
KASP Assay ID:
2260-1327.1 (used for ordering genotyping assays)
KASP Sequence:
AAGAGGACAGAGAGAGCTTGCTGAAATTTACAGATCAGTTTCAGCCCTTT[C/T]GAAATATTGTCAGTCAAGTCAGCWGCAGTACCTGGGAGAAGGTCATCAGG
Long Flanking Sequence:
GCAGGACCGGCTCTCTATGCCTTCAATGATGCAGCATTCACAGAGGAAGACTGGGAGGGAATACAGAGAGTTGGCAGAAGCATCAAGCAGGATGATCCTACAAAAGTTGGGAGATTTGGCATTGGTTTCAACTCTGTTTATCATATTACAGGTGAGAACAAATTAAAACTTTGATATGAGGCTAAAATGTCTCCTCCTTACAGTATGTGTGCAGTATTTGCATTAATTCAGCAGCTCATTATCAATCCCTTACATTATCATTACTCATCATAGTGCATTATAATGTACATGATCCCTGATCAGCTGCAACATCATTCTGTATGAATAATTATCGTATTTTATTTACAGACTTGCCATGTGTCTTCAGTTCTGAACACCTTGCCATTTTTGACCCGCAAAAGCAGATGTTTGATGATGATGAAGAAGGCTATCGATGGTCTTTGGATGATGAAGAGGACAGAGAGAGCTTGCTGAAATTTACAGATCAGTTTCAGCCCTTT[C/T]GAAATATTGTCAGTCAAGTCAGCTGCAGTACCTGGGAGAAGGTCATCAGGGATGAGAAATACTTCAAAGGAACACTCTTCCGGTTCCCCCTGCGTAATGAGGCTTCTGAGATCTCGGATAACCTGTACGACTCCACTAAAGTTAAACAGCTTTTTGACAGTTTCCTTGCTGATGCAGACATCAGTCTTCTTTTTCTGAGGAATGTGTCATCCATTTCTTTGCTGCATATTGACACCAATGGCACCTGCAACAATACACTCAAGGTTTCAGCGTCAAATCACTTTCACAATGATCTCTCTCATGTTAAGCTACAACTGCTTGACCGAAAAACATGTGTCAAAACCGTATCCTACATTCCCCATCAAAGCGAAGAAAAAAAGTCTAAGTGGCTCGTGACAACTTGTCTTCTGAGACATGGATCTAATCCAGAGATTGACTCTCTTGCCAGTAAGCTGAGCTTCTGCCCTCAGGTTGATGCAGCATTTCGATTAGAAGACAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15453
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 |
|---|---|---|---|---|---|
| ENSDART00000111547 | Nonsense | 177 | 605 | 5 | 5 |
| ENSDART00000114882 | Nonsense | 166 | 4234 | 4 | 7 |
| ENSDART00000111547 | Nonsense | 177 | 605 | 5 | 5 |
| ENSDART00000114882 | Nonsense | 166 | 4234 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 554825)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 569992 |
| GRCz11 | 9 | 569625 |
KASP Assay ID:
2260-1327.1 (used for ordering genotyping assays)
KASP Sequence:
AAGAGGACAGAGAGAGCTTGCTGAAATTTACAGATCAGTTTCAGCCCTTT[C/T]GAAATATTGTCAGTCAAGTCAGCWGCAGTACCTGGGAGAAGGTCATCAGG
Long Flanking Sequence:
GCAGGACCGGCTCTCTATGCCTTCAATGATGCAGCATTCACAGAGGAAGACTGGGAGGGAATACAGAGAGTTGGCAGAAGCATCAAGCAGGATGATCCTACAAAAGTTGGGAGATTTGGCATTGGTTTCAACTCTGTTTATCATATTACAGGTGAGAACAAATTAAAACTTTGATATGAGGCTAAAATGTCTCCTCCTTACAGTATGTGTGCAGTATTTGCATTAATTCAGCAGCTCATTATCAATCCCTTACATTATCATTACTCATCATAGTGCATTATAATGTACATGATCCCTGATCAGCTGCAACATCATTCTGTATGAATAATTATCGTATTTTATTTACAGACTTGCCATGTGTCTTCAGTTCTGAACACCTTGCCATTTTTGACCCGCAAAAGCAGATGTTTGATGATGATGAAGAAGGCTATCGATGGTCTTTGGATGATGAAGAGGACAGAGAGAGCTTGCTGAAATTTACAGATCAGTTTCAGCCCTTT[C/T]GAAATATTGTCAGTCAAGTCAGCTGCAGTACCTGGGAGAAGGTCATCAGGGATGAGAAATACTTCAAAGGAACACTCTTCCGGTTCCCCCTGCGTAATGAGGCTTCTGAGATCTCGGATAACCTGTACGACTCCACTAAAGTTAAACAGCTTTTTGACAGTTTCCTTGCTGATGCAGACATCAGTCTTCTTTTTCTGAGGAATGTGTCATCCATTTCTTTGCTGCATATTGACACCAATGGCACCTGCAACAATACACTCAAGGTTTCAGCGTCAAATCACTTTCACAATGATCTCTCTCATGTTAAGCTACAACTGCTTGACCGAAAAACATGTGTCAAAACCGTATCCTACATTCCCCATCAAAGCGAAGAAAAAAAGTCTAAGTGGCTCGTGACAACTTGTCTTCTGAGACATGGATCTAATCCAGAGATTGACTCTCTTGCCAGTAAGCTGAGCTTCTGCCCTCAGGTTGATGCAGCATTTCGATTAGAAGACAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17059
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111547 | Nonsense | 597 | 605 | 5 | 5 |
| ENSDART00000114882 | Nonsense | 586 | 4234 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 556085)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 571252 |
| GRCz11 | 9 | 570885 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTTCACTTCTATCAGTACTGGGGWGCAGAACRCTGTTTWAATTGACAAT[G/T]AGAAGTTTCCAAGGTACGGTTGGACATCTCTTTTCTACNNNNNTTCTTTAGTGTC
Long Flanking Sequence:
ACACTGTGTACAATCTTTGGCCTGACCTATCCAAGACTGTGCTTAAAGATAGATGGCATAAAGTTGCAGCAGATACTCTGAAGGGTCTTTTTGGATACAAGATCTTTCACCTTGCCAGTGATGAGAAGACCTGGGTGTCTCCCTCAGATGCAGTCCTTCCAGTCAACAACTTACACAGTGACACGATGTCTGCAGTTTCAAGGTTACTGATTGGTGAAGGAGAGAAATTGGTCAAAGTTCCAGAACATGTCTTGAAAGATGTTCAAGAAATCTTCCCCCAAAGTGATACCCTGACATGGGTGACTCCATCTTATGTTAGAGATGTCATTCGCAGAAGTGCGGCCGGAAACCTCAGCAAAGATGACAAATACCGTCTTCTTGAATTTGCTCTGAGTGATGGCAAGTTTACAGATCTACAAGGTCTTCAGATTGTCCCTCTCAGTGATGGAACCTTCACTTCTATCAGTACTGGGGTGCAGAACGCTGTTTTAATTGACAAT[G/T]AGAAGTTTCCAAGGTACGGTTGGACATCTCTTTTCTACTTCTTTAGTGTCATTATATTCTGCTGGCAAAGTGGTAATAATCCGTTTTCTTCCTTGTTTAGGACATTACTGCCATTTTGTAAAGAGAGATTTTTAGTCAATGATCTGAGCCAACTTTGCACTACACAACTGCGGAAACTAGCAGAAAAGAGTAAGAAAATCTATTAAATATATTTATTCAATTATTACAATATATTGAATATCTTTTATGCACGTTTGTGAATTTTGTTCTAATTAATCACTGTTTTTCAGACACATACAACATCATCAATTTGGATGCAAGACGTGTTGTTGAGCTCACCAAGAAGCACTTACCTAAGGACTGGACGGTGACCAAAGGTCATGTTAAATGGAAAACAGCAGATAATCATCACCCACCGAAGAGCTGGCTGCCTGAATTCTGGAAGTTTCTTAACAGTGAATATAATGATTTAAGAAACTTTAGTGACATGCCATTAATAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16215
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111547 | None | None | 605 | None | 5 |
| ENSDART00000114882 | Nonsense | 1583 | 4234 | 7 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 559280)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 574447 |
| GRCz11 | 9 | 574080 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCCACTGAGTGAWCAGATTCAGACTCCTCTGAAAATATCAAGAGAAGTCT[T/A]GAACTCATTTCYTGTCTCAAATGACACACTTCTCCAAAAGCTCAAGAGCA
Long Flanking Sequence:
TGGAAAGTTCGGGCTTGGGTTTAACGCTGTTTACCATGTGAGTGACATTCCCTCTATTCTGAGTGGGAAAAAGCTTCTCATTCTTGATCCAAATGTCACCCATCTGGAAAAGCACATAGGCAGCAAAGGGAACCCGGGAATTAAACTTGACCCATTCCAAGAAAGGCTCTGCAAAAGGTTTCCTGGACAGTTTAAACCTTACGAAGGAATTTTCGATTGTGATCTGTCAGTGCGAAACAGCAAGAGAGCTTACAATGGCACCTTGATTAAATTACCCTTTCGTACTCAGGAAGAGGCAGAGACGTCTAAGATCAGTTCAAAGGTATATGACGAGCAGCGCATCCTGAGCTTTATAAATCATTTGACTGACAACTCACAATCTCACGTATTGTTTCTGAAGACTGTTACATCTATGTCACTTCAAATTGTCCCCAAAACTGCGTCTACTCCGCCACTGAGTGATCAGATTCAGACTCCTCTGAAAATATCAAGAGAAGTCT[T/A]GAACTCATTTCTTGTCTCAAATGACACACTTCTCCAAAAGCTCAAGAGCAATTTCAGAAATATTGATATCCCATGGCACAAGATTACTGATGCCAGCACAGCACACATTGTTAAAATAGTTCAGGAGCACTCCGAGAAATCCCTCACCCAGTACTGGCTTTTGTACTCATGTTTTGGGAGTCAGGAGTCTTTGCAAATGTTCCAGAGAAAAAACGAACAAGACCATGTGTTTTCATTTCCAATTGGAGGTATAGCTGTACCATTGCAGAAAGAGGGAAAAACTAAAGCATGGTCCCCTGATAAAAGCCTCTCTGGCCAGGCTTTTTGCTTTCTCCCACTTTCAATTGAGACAGGTCTTCCAGTCCATGTCAATGGTACCTTTGCAATCACATCAAACAGGAAAAATCTGTGGGAAAAAGGAGTGAAGTCTGAGTGGAACAAAGCTTTACTTAAAGATGCTGTAACTTCTGCTTACATCACTACACTGCTTGAGCTGAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21411
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111547 | None | None | 605 | None | 5 |
| ENSDART00000114882 | Nonsense | 1699 | 4234 | 7 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 559627)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 574794 |
| GRCz11 | 9 | 574427 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGATAAAAGCCTCTCTGGCCAGGCTTTTTGCTTTCTCCCACTTTCAATT[G/T]AGACAGGTCTTCCAGTCCATGTCAATGGTACCTTTGCAATCACATCAAAC
Long Flanking Sequence:
GCTTTATAAATCATTTGACTGACAACTCACAATCTCACGTATTGTTTCTGAAGACTGTTACATCTATGTCACTTCAAATTGTCCCCAAAACTGCGTCTACTCCGCCACTGAGTGATCAGATTCAGACTCCTCTGAAAATATCAAGAGAAGTCTTGAACTCATTTCTTGTCTCAAATGACACACTTCTCCAAAAGCTCAAGAGCAATTTCAGAAATATTGATATCCCATGGCACAAGATTACTGATGCCAGCACAGCACACATTGTTAAAATAGTTCAGGAGCACTCCGAGAAATCCCTCACCCAGTACTGGCTTTTGTACTCATGTTTTGGGAGTCAGGAGTCTTTGCAAATGTTCCAGAGAAAAAACGAACAAGACCATGTGTTTTCATTTCCAATTGGAGGTATAGCTGTACCATTGCAGAAAGAGGGAAAAACTAAAGCATGGTCCCCTGATAAAAGCCTCTCTGGCCAGGCTTTTTGCTTTCTCCCACTTTCAATT[G/T]AGACAGGTCTTCCAGTCCATGTCAATGGTACCTTTGCAATCACATCAAACAGGAAAAATCTGTGGGAAAAAGGAGTGAAGTCTGAGTGGAACAAAGCTTTACTTAAAGATGCTGTAACTTCTGCTTACATCACTACACTGCTTGAGCTGAAGAAAATGAGCCAAAATGGTGACATTCAGAACTATTTCTTCTGTACATTCTGGCCAAACACAGCAAAAGTCTCCAAAGCATTTCTTCCTGTGGTTGAGTCTTTCTACTCAGCAGTTGTGCAGAATGCCAATGGTAAATCTCTGGAGCTTTTCAGCAATGAACATGCTTGGTGTTCTGTAGACAAGGTGAGATTTCTTAATTCAGAGATCGAGGAGAACCCTGCAGTTGGAGGCATTGCCATGAAAGTGATCTTGAGCTTGGGAGCTTCTTATTCTTCTGTTGTTTCCCTGCCATCATGGGTTAAACAGAGTTTTATCGATTGTGGCTTTGAGCAATTAATCAAACAGAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21412
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111547 | None | None | 605 | None | 5 |
| ENSDART00000114882 | Nonsense | 1833 | 4234 | 7 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 560030)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 575197 |
| GRCz11 | 9 | 574830 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGATCGAGGAGAACCCTGCAGTTGGAGGCATTGCCATGAAAGTGATCT[T/A]GAGCTTGGGAGCTTCTTATTCTTCTGTTGTTTCCCTGCCATCATGGGTTA
Long Flanking Sequence:
TATAGCTGTACCATTGCAGAAAGAGGGAAAAACTAAAGCATGGTCCCCTGATAAAAGCCTCTCTGGCCAGGCTTTTTGCTTTCTCCCACTTTCAATTGAGACAGGTCTTCCAGTCCATGTCAATGGTACCTTTGCAATCACATCAAACAGGAAAAATCTGTGGGAAAAAGGAGTGAAGTCTGAGTGGAACAAAGCTTTACTTAAAGATGCTGTAACTTCTGCTTACATCACTACACTGCTTGAGCTGAAGAAAATGAGCCAAAATGGTGACATTCAGAACTATTTCTTCTGTACATTCTGGCCAAACACAGCAAAAGTCTCCAAAGCATTTCTTCCTGTGGTTGAGTCTTTCTACTCAGCAGTTGTGCAGAATGCCAATGGTAAATCTCTGGAGCTTTTCAGCAATGAACATGCTTGGTGTTCTGTAGACAAGGTGAGATTTCTTAATTCAGAGATCGAGGAGAACCCTGCAGTTGGAGGCATTGCCATGAAAGTGATCT[T/A]GAGCTTGGGAGCTTCTTATTCTTCTGTTGTTTCCCTGCCATCATGGGTTAAACAGAGTTTTATCGATTGTGGCTTTGAGCAATTAATCAAACAGAGAACAATCAACTGGCCTGAGTTTTACAGCATTGTCTTGAACAACTTGAGCATAGTGGATCCTCACAACAGAAATACTCTTGTGCTGAATGCCATTGACTTGAATGATCCTGCTGTTGATGACCTACTGAAAAGTCACCCTTGCATTCCAACACAGAGTTGTACAGATCTTCAGTTTATCAAGCGACTTGTGAATCCTTCTGGTAAAATGGCTTGTTTGTATGAACTTGAGGAAGGACGCTTTCTTGAGGGGACTCCAAACGACTTCCTCTCACCAAAAAGAATTCAGCGACTTTCCGGCTTGGGAATGCTGAGTGACCATCTACATTCTGATGACATCATAGAAAGAGCAGGGAAGATTTCCAGCTTTTGGCAACAGGACAAATCTAAATGTCGTAAGCGTCTTC
Associated Phenotype:
Not determined