ENSDARG00000088261

Ensembl ID:
ENSDARG00000088261
Human Orthologue:
ATXN1
Human Description:
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Mouse Orthologue:
Atxn1
Mouse Description:
ataxin 1 Gene [Source:MGI Symbol;Acc:MGI:104783]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15991 Nonsense Available for shipment Available now
sa24233 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa15991
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129275 Nonsense 167 546 1 2
Genomic Location:
Chromosome 23 (position 676908)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCA[C/T]AGCCTGCCGTTTATCYKCCCGACAGCSTCMCCGACAGCAGACTCAGGTRC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24233
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 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129275 Nonsense 340 546 1 2
Genomic Location:
Chromosome 23 (position 676387)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTG[G/A]AGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/k7qnsx73