ZMP

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 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15991	Nonsense	Available for shipment	Available now
sa24233	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa15991

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000129275	Nonsense	167	546	1	2

Genomic Location (Zv9):

Chromosome 23 (position 676908)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	647802
GRCz11	23	660595

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCA[C/T]AGCCTGCCGTTTATCYKCCCGACAGCSTCMCCGACAGCAGACTCAGGTRC

Long Flanking Sequence:

CCATGAATCCAAGCCCAGACCGCAGCAAGGAATGTCTCCCCCCAAAAAAGAGGGAGTCCCGCCAGGGCTCTACGGATCAGCCAGCCCCAGAGGATGACTTCAAACCTCCTGCACCTTTCCGGAGCCGGAGGCCACATCAGCCTACAGAGGGTCCCAGAGAGGGTGGGGATCTGCTGCCACCTGTCCCGCTGCCGCTACCCTGGCCGGTGTCCTACACCCCCTCTATACATCCCCACACATACCTGCCTCTACAGCTGGGGGAGCGGCGCGGGTCCTGGAGAGAGGCGCTGTGTGGACGGGGTGTGGATGGAGGACTGGAGCAGAGTGTTCCTCAGCACTCTCGCTGGCTCAGCAGCGACATCCCTCACATTAACATGCAGCCGCTCCTCTCCGTGCCCACATTCAAGAGTGTCTACAGTGGGGATTCCAGGGAAATGTGGTCCTGTGGCCTCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCA[C/T]AGCCTGCCGTTTATCCGCCCGACAGCCTCCCCGACAGCAGACTCAGGTACCAGAGTAGGCGGCACAACGGCATCGATGGCCAAGACTGCAAGTCTGGGTTCAGCAGAAGGGTGCCCTCCTGCAACGACTATGGGAATGACAGCGTCAGCAGGTTAGATGCTCCACATGCCAATGGCAGAAGAAGACAGGAGAACACAAGCAGACAGACCCCTGAGAAGCGCCTTCCGCCACAAGTGAGTACAAGTGCACATTCCTCACCGTGGGACAGGGACCCTCGGGGAACACCCAAAGCTTCAATGCCCCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTCTGCTCAGCAGAACCCTCAAGTGTTTCCACAGCCGAGATCTCCCCTGTCCTGCTCCGCAAGGAGCTCCCAGAACCAACACAACAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24233

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000129275	Nonsense	340	546	1	2

Genomic Location (Zv9):

Chromosome 23 (position 676387)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	647281
GRCz11	23	660074

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTG[G/A]AGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCC

Long Flanking Sequence:

GACAGCCTCCCCGACAGCAGACTCAGGTACCAGAGTAGGCGGCACAACGGCATCGATGGCCAAGACTGCAAGTCTGGGTTCAGCAGAAGGGTGCCCTCCTGCAACGACTATGGGAATGACAGCGTCAGCAGGTTAGATGCTCCACATGCCAATGGCAGAAGAAGACAGGAGAACACAAGCAGACAGACCCCTGAGAAGCGCCTTCCGCCACAAGTGAGTACAAGTGCACATTCCTCACCGTGGGACAGGGACCCTCGGGGAACACCCAAAGCTTCAATGCCCCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTCTGCTCAGCAGAACCCTCAAGTGTTTCCACAGCCGAGATCTCCCCTGTCCTGCTCCGCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTG[G/A]AGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCCAGACCCTCCACCTTCTGCAGTCCTACCTCATTTTGCCAAAGGTTCCCTGATTGAACTAGCTGGTGGCCATCTGAAAAGGGTGGAGGAGCTGAAGACAGAAGACTTTTTGCGCAGTGCTGACACCTTGCCGGAGTTTCACCTGAGCTCCTGCACTATTCTGTTGATCTCACCAGGACCCACTTACGGATTCAACCACTTGCAGGTCTTGCTCACAGACCGAAACACTCAGGTTAGTCCAGCTCAACACACATGCATACACAAATGAAACTACAGTCAACCCTGGAATGATTCACACACTTGCGGCATGATTCCAGACTTGACTGTATAAGCACAGCTCAAGTGAAGACACATTTTACTAGTGATGTCCACAGTCTACCAGAATAATGAGGAAAAATATACACACAAACACGGGTAACCATGAAAATGAACTTGAAACCTCTTCCTGATGCA

Associated Phenotype:

Not determined