ZMP

ENSDARG00000088362

Ensembl ID:

ENSDARG00000088362

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 is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa35018	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa35018

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130328	Nonsense	9	448	1	2

Genomic Location (Zv9):

Chromosome 11 (position 7187378)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	7090591
GRCz11	11	7100430

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCTGTACTCATTAAAAAAGAAAACATGAGTTCCTCTATTTTAGAAAAAT[G/A]GGACTCTTTACCAAGCTGTAATGAACAGTTACCAGAACCCATTTTTAAGA

Long Flanking Sequence:

CTTTTTTGTCTTTTTCAGAAAATCGTGGAACTGGAAACCACCAAGTCAAGATTCTTTTGAATCCAAAAAACTATTTTTACATCGCAACAACCCAAACAAAACTATACACTCCTAATTTTGCTCCAAAAAAAAAAAAAAACTTTTACAATGTTCGCTGTTAACATATCAAATCATTTTATACCTTTTACTAATTGCACTTCTCTAAAATCAATAATTAAGACAGAAAAATGAACAATACAACATTTAAATCAAATGTGATCCTGCTAATATTGGAGAAAACAAGTAACATATTATAATCTTAAGTGACTTTTAAAAAATATGTGTTGTTACATTTTAAGTAATATGTAAGTAGCCAACATGTTAGGCTATTTCTTAATTTTTTAAATAGTAAAATAGGCCTAAAATTGTAATATTTTACTTTTTTACCCAATACAGGATACTGCAGACATTTGCTGTACTCATTAAAAAAGAAAACATGAGTTCCTCTATTTTAGAAAAAT[G/A]GGACTCTTTACCAAGCTGTAATGAACAGTTACCAGAACCCATTTTTAAGACCCCGTCACCCTTTTGGAATCAGGATATAATATTCAAAAGACCAAGACAAGAGTACACACCTGATGCTGTTAGAGAGGCATACAACTTGTATACTTACAGGTGTGATTTAGGCTCTCGTGTAAGTCCGGACCTTCGTTTTGGAGCAGCTCAGACCCACTCTTCTCTAAGTCTAAACTCTTCCAACAGTAGATATCTTCCACCTTCGTCAGAATTACTTGTGACTGATCCAAATATGCTGCATTTTGGAAGAGGACCTTCATACTGGAGGTATTTCACTCCAGAAGCAGGATATGGACTTGTCAAAGGCTTTAGAAAGCTGCGTAATCCACAAACTGACACACTGCCGGCTTCATATTTCTATAGAGGAGTTAACAGGGATGTTTTAAGAAGAGATTTTCCAATGGAGGAAACCCAAACAGGCATGCAAAAGCACAGACTGAGGTATTCAC

Associated Phenotype:

Not determined