ATXN1L

Ensembl ID:
ENSDARG00000086977
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 Estimate
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 During 2018

Mutation Details

Allele Name:
sa21147
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
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 from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGGGAGAATGTCTCCTGGACAGAGCAGCACACCTGACACTGATCTCGAG[G/A]TAGGCTTATGTCAAGATCAGATTTTTTCATTGTGATTGTCAACCTCAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21146
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127351 Essential Splice Site 416 651 5 6
ENSDART00000130304   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 from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCAACAGGGTCAGCAGGTGATTTCTGCCCCAGCTCCTGGTGCTTTTCCAC[A/T]AGCTCCTCTGCTAGCACCCACCGGCCCATCGCACTTCATGAAGGGCGCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45303
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127351 Essential Splice Site 587 651 5 6
ENSDART00000130304   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 from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCAGCCTATGGGCCCCCCTGCACCCCAGCACACACCTCGACCACAAAG[T/C]CACTTAAAGATCCACAGAGAGAGGGAACATAACAAGGAAGAGCCCATGCA
Associated Phenotype:
Not determined

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