ZMP
SETX
Ensembl ID:
Description:
senataxin [Source:HGNC Symbol;Acc:445]
Human Orthologue:
SETX
Human Description:
senataxin [Source:HGNC Symbol;Acc:445]
Mouse Orthologue:
Setx
Mouse Description:
senataxin Gene [Source:MGI Symbol;Acc:MGI:2443480]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32326 | Nonsense | Available for shipment | Available now |
sa11606 | Nonsense | Available for shipment | Available now |
sa37214 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa44951 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa29496 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32326
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 |
---|---|---|---|---|---|
ENSDART00000082314 | Nonsense | 151 | 2368 | 3 | 24 |
Genomic Location (Zv9):
Chromosome 21 (position 4229713)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 3784371 |
GRCz11 | 21 | 3948990 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACAGCTGATATGGTGGTTAGGGTCTTGTACAAGTTGCAGGATTGGCAG[C/T]AAACTTTGAGTTGGTCTGAGAAGTATCAGGGAACATATCTGCTTCTCGTT
Long Flanking Sequence:
TTTCTGTGTGGAGTTTGCATGTTCTCCCTGTGTTGGCGTGGGTTTCTTCTGGGTGCTCCAGTTTCCCCCACAGCCCAAAGACATGTGGTATAAGTTAATTGGTTGAACTATCTGTAAATGTGTATGGATGTTTTCCAGTACTGGGTTGCAGCTGAAATGGCATTCGCTGTGTGAAATGTGCAGGATAAGTTGGCGGTTCATTCCGCTGTGGTGACCCCTGATGAATAAAGAGACTAAGCCGAAAGAAAAGGAATGAATGAATAAATTGAATGATTTTTCTATGCCCTATTATCTGTATGGTAATCTATACGTTTGTGTAATGCTTGTTTAACAAGAAATCATTAATTAACTGTATATTAAATATTCATTACCAATGTTGTCATGGGTTTTAAATGCCTTATCAGCAGCATTCCTACATTTAAGTAACTATATAATATAAATATTTATTCTCCACAGCTGATATGGTGGTTAGGGTCTTGTACAAGTTGCAGGATTGGCAG[C/T]AAACTTTGAGTTGGTCTGAGAAGTATCAGGGAACATATCTGCTTCTCGTTCATCCCGATGAAAAGGTAACTCGGCAACAAAACCACATATTTTATGATAAACAGCCTCTTGTGTCTTAAATTATTATTTACATTTCTTTACTACGTGGTTCTCTTTCCTATCCAGGTGCGTCGCTGGGCAATTGATCTAGCAAAAACCTTAAAGAGTGTGGACCGGGATGCCTATTATGACCTTCGGGAGATCTTCGCTTGCATGTTTCAAATAATCGAGCTTGGAATATCTTTAGATTTACCAGATTTGGATCCTGGGTGTTATGCAAGCGGAAAAGTGCCCATGCTGCCCTCTCACCTCTATGATGCAAAGAACAAGAAGAACTACTGGCTAGGTCTGTTTATTACAGTTTTCTCCAGATCCTCTTTTCTTAATGGTCTTTCCATTGATCACTTCCTTCTGTTACTAAACTCTGAACAGATACACTGCATTTAAGTTTCTGTTCCCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11606
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 |
---|---|---|---|---|---|
ENSDART00000082314 | Nonsense | 472 | 2368 | 8 | 24 |
Genomic Location (Zv9):
Chromosome 21 (position 4225983)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 3788101 |
GRCz11 | 21 | 3952720 |
KASP Assay ID:
2261-5144.1 (used for ordering genotyping assays)
KASP Sequence:
AARCAAGCGTGTGTGATAAAGTGACTGAGCTCTTTGCTCGTATCTTTATT[C/T]AAATCGTTGAGCTACACTATACCGAAGGACAAATGGGAATACTTTCTCGC
Long Flanking Sequence:
GCCAGAATATGACGACAATGTCGTGACTTGCAGTCAGATGGTGTATGACTGTTATGCCTCGAAAAAACAAGGCCATGTAAGATTTCTTCCTAAATATTGTACTGCACCACAGTGTATTTGCTTTTATGCAGTAAACATTGACTGCATTGCTTTAATGCATATTAGGAATAAAGCTGAATATTCTCCTAATCTTCGTCTTGTAGGCACCTGGCTCATCCAACAGTGGTGTTGGCAGCAACTATGTGATTTATGACGATATGCAATCACTGGTCAGCGTGCTTAATTCAGAGATGGGCCAGAGCATGCGTGTATATGGATGCACTTTTCTGTGGTTCATCCCATTTGTTCGTTCCATAATGGAACTTCAAGAGCACAATGCTTCCTATATTAGTGAAATCATCCACTATCTTTGTGATAAGATCCGAGATAATCGGTACATGCTGACTGGACAAGCAAGCGTGTGTGATAAAGTGACTGAGCTCTTTGCTCGTATCTTTATT[C/T]AAATCGTTGAGCTACACTATACCGAAGGACAAATGGGAATACTTTCTCGCTGTCCCCCCAAGTGGGTTGAGGTGATTGTCATGTGCGTCGTCTTATGTGATGAACCTTATGGACCCCCAGACAGGATGGGTGGGATTCACAGTGTCAGTTCAACATCTTACAGTCTTGGCATTGTAGGAAGACCTACATCAGAATGTGGGAATGGAGCAATAATTAAAGGCTGTTTGACGCTTATTCGGCAGCTGCTTAAGGAAGGGAAAAGAAGATCTGACCCAGATGCGGCCATGTTTTTGAATTTGCTTAACAAGCAGCTGCGTGGTGATACCAACAAAAGGTGGAGTCTAACTTTTTCAAATTCTGCAAAGCTTCAGCAGTGTTTGAGGAAAATTGTGCAGCTGATGGCTGAAAGACCTGCTGTTCCACCCCGATCCGCACCATCTGTTGAGGCAGCTACAAATACTGTTGTTTCCAGAAATTCAGTATCAATCTGCCAACAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37214
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082314 | Nonsense | 882 | 2368 | 8 | 24 |
Genomic Location (Zv9):
Chromosome 21 (position 4224752)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 3789332 |
GRCz11 | 21 | 3953951 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAATATGTGGCATCTGCTTGGGATAATGCAGATTTGGATGGATCAGTCT[T/A]GACAAAGAATCTCAAATCAGATCGAATACTCAAGCCACAGTTGGATGAAA
Long Flanking Sequence:
AAATGATGATCAGAGTTTGTCAAAGATCGAAGCAATTGCAAGGAAGAAGTCTGACGTGTCAGCTAAAAAGAGACCAGGTTTTGGGGCTTTAAAAAATGAGGAGGAGGAGGAGGATGATGATGATGATGATGATGATGATGAACCCCTTCATATCACTCGAACTCGTCTGATAAAATCTGCAATCCACAAGCTTGAATCTAGTGACTCTGACGTTGACTCCAGAGCAACTGCGTCTTCGGTTATTTCCAAGCAGAACACAGAGTCCACTACCATAGTTATCTCTGATGATGAAGATTCTGATAATGATATAAGGCCAAATGACCCCTTGAGGTCTAGTTACAAAGAATGCACAGTAAAAAACAAATCTCCAGAAAGTCCTGTAATGCCTGAGAGTCCGGGGCGTGATTATGATGATCTAAGTGAATCACAAGTGTTTGAGTTTGAGACTCAGCAATATGTGGCATCTGCTTGGGATAATGCAGATTTGGATGGATCAGTCT[T/A]GACAAAGAATCTCAAATCAGATCGAATACTCAAGCCACAGTTGGATGAAACGCCTAATGAAGCATCTCCCTCATGGAGTTCAGAGACTGAGCTGGTACCAGATGAGGACATTGAGAGGGCCTGTCAGCAGGCAGAAGAGAAGATCAGACAACAGCAGCCGAGAAAGCCAGCAGATGAGATGGAAAGAGACTATAAGCAGGTGGAAGAGAAAATCAGACCACAGCAGACACGAGAGAATTCGGATGTGCATGAATTCTCATCCAAAGCATCAAGTACTACAAAAAGCTGGGATAAATTTGCCAAACCAAAACCTCTAAAGACTAAAGTAACAAAAACCACTCCATCTGATAAGAGAGACCATTTGCAGGTTAAAAAGCCAGTGTTAATTGATGCCCTTGCTCAAAAAATCAGACGCCACCCTTGGAAACGTAGCTCAACATCTGAGGACATGGAGGAACCTTCCTCTTCAACTACTCCATCCTCATCTGCTGTATCCTCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44951
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082314 | Nonsense | 1399 | 2368 | 8 | 24 |
Genomic Location (Zv9):
Chromosome 21 (position 4223201)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 3790883 |
GRCz11 | 21 | 3955502 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTCCCCCTCCTGCAAATGTCGCTAAAGCAAAAATTCCTCGATTGGCTT[C/A]AGCAATGCCACCCCCAGCAATGCCACCACCAAAAATGCCACCCCCCAAAA
Long Flanking Sequence:
AGGGAGTAGCGATTCTAGTGGGGATGGGGTAGGGAATAAGTTCCTCCAAGCTAGTGAGGCTGCTGAAGGTAACTTGGAAGGAGAGAAAGCTGCTCAAGCATCAAAAGAGGATGTTGATGATGAATGGATGTTCTATACACAGATGGAACCTACAGACATGGAAATCTGTTCACAAATGGAGGAATTTGAGGATGAAAACGACGAACTCTTTCTTACCCAGAGAGATCCTGTTGACATGGACATCGATACAGATAGTGGGTCGGATACCCCTGGTCAACCTGACTTCACTGACAAAAATGTACCGCCTTCTAATGCGGCAAATGATCATTTGTTCTTGAAGCCTGGAATGTCACCCATGTCTCAGAAAAAAGCCAAACCTTCCACCACTAAAATATACACTCCCAGCTCCCGTAGTGCCTCACTTGTCCTTGAAATGGAAAAAGGAGCCAAGCCTCCCCCTCCTGCAAATGTCGCTAAAGCAAAAATTCCTCGATTGGCTT[C/A]AGCAATGCCACCCCCAGCAATGCCACCACCAAAAATGCCACCCCCCAAAATGTTCCAGCCTTTACCCCCTCCACAATTACCAAAGCCACCTGCCTTAAAACAAGTAACTCTTCCTCAGGGCAGTGTCCCCAAGTTGGTCACCAGTAATAAAATAAGCTCAACCTCAGAACCCCCATCATACAAGGTATACCAAAGACCAGAGGCTCCAGTTAACAAGCCAGTTAACAAACCAATGCCCACAATGGATCAAAGCCCAAAGTTTGACCTTTCGGTGTTAACCCAGGCAATCCTTAAATGGGAATACAGAATGCTTGATAATTATAAAGCATTTGGGAGTCCACTTGATCTGTGCCAACTGCCGCTGAAGGAGGTGCCAGTAAATTTTTCTTCCTACCTGGAGTACTTCAACACCTTGTACCCACTGCTGCTAATTAATGCATTCGAAGAGGTGGGACTACATTTTATTTCAGTAATGCCTAAATCTTTTGATATAATTGGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29496
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 |
---|---|---|---|---|---|
ENSDART00000082314 | Essential Splice Site | 1764 | 2368 | 12 | 24 |
Genomic Location (Zv9):
Chromosome 21 (position 4220559)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 3793525 |
GRCz11 | 21 | 3958144 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGAAGAGTAAAACAATTGGTGGTCTGTTGTACAAACTTCTGTCTTCGG[T/C]ACTTATTTTCCCATCTGAATGCATCTTTATTTCTCCATACTCTGCATGCT
Long Flanking Sequence:
TCCTGCAGATTTCAGTTGCAACCGGTATCGAATGCACCTACCTGTAATTATCAAGTGCAGTTCAGGTCCTAATTAGTTGTTTCAGGTGTGTTTGATTAGAGCTGGAACTAAACTCTGCAGGAAGACTGATCTTCTGAAAAAGGGTTGAACACCTGGAATTGAGAACCCAGGGTCTAGAGTACCTACTCAAATCCAATAGGTGAAACACCCTTTTTTGGCTTGCTTTCCTTTCACAATTTTTTTTTTTTGGTATGCTTTTGTATGTTGTCTTACTTTTTTTTTCTATACTTTTTATCTACTCCTCTTTACTTTTTCTTGCTTTCATTTATTTTGTCCTCTATTCCAGGAATTCAACAGGGACCAGGCAAGAGCAATAGCATGTGGGATCGCTATGATACACCGAAAACAGAAGACTCCAAAATTTCTCCTTATTCATGGTCCTCCTGGCACTGGGAAGAGTAAAACAATTGGTGGTCTGTTGTACAAACTTCTGTCTTCGG[T/C]ACTTATTTTCCCATCTGAATGCATCTTTATTTCTCCATACTCTGCATGCTCTCAAGGACACCTTAATCTGTGACTTATTGTTTGTCGTTATCTGGTTAGGCTACTAATAGTTCTGCTACTGTGGGCAACCTTCACTCCAAATCTCGACGGACACGTGTTCTTCTCTGTGCACCTTCTAATGCTGCCATTGACAGTCTGATGAAGAAAGTCATCTTGATCTTTAAAGAGAAATGTCGAAACATTAACGCACCTCAAGGTTCTAGCTTGCACAACCATTGACATTTCAACAAACATGCATGCCTTAGACTGTCATTTACGCAACCCTTTTGTGTGTGTGTACAGGTAATTGTGGTGACATAAACCTGGTAAGACTGGGAAATGAAAGAACCATCTCAAAGTCACTAAAACCTTTCAGCCTCGACCACCAGACTAAAGCAAGAGCTCGTAAGAGATTTATTACTTCATGAAGTAACACCACATGCATATGTAGACATAACATT
Associated Phenotype:
Not determined