ZMP
ATXN7L1
Ensembl ID:
Description:
ataxin 7-like 1 [Source:HGNC Symbol;Acc:22210]
Human Orthologue:
ATXN7L1
Human Description:
ataxin 7-like 1 [Source:HGNC Symbol;Acc:22210]
Mouse Orthologue:
Atxn7l1
Mouse Description:
ataxin 7-like 1 Gene [Source:MGI Symbol;Acc:MGI:3584458]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa8718 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa8718
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:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000122605 | Nonsense | 402 | 593 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 4 (position 3313408)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 3429210 |
| GRCz11 | 4 | 3442537 |
KASP Assay ID:
2259-4377.1 (used for ordering genotyping assays)
KASP Sequence:
TTCAGCAGTCGGCTGATGGGACGGGGTCATTACGTGTTTGACAGRCGGTG[G/A]GATCGGGTGAGGCTGGCGCTTCACTGCATGGTGGAGAAACACGTCAACTC
Long Flanking Sequence:
GTTGTCTAACAACAGTAATATTTGTCAAACTGTGGTGTCTGCTTGTTCCTGGTTGTATGTGGGCGGAGTAATACACAAAGGGTAAAGAGGCTGTACGGATGCTGATGTTACTTCAATATATCACGGCTATCAGCCAATCGGATTCGAGATCCTGACAGAACTGTTGTATAAATATATATATAGTTATATACAGAGTCAAAAAAAGTTCGTCTACGTTGCTTATGGTTTGGATTACATGAAATTCACCTTCAGACTGCTCTGAAAAATGCTAATAAATCCATTAACTATGTTTCGGTCCCCCTATTTTTAATAAAAATACTTTAAAATATTGCATGAAAATACGATTAATGGCAACACCAAGGTGTGTTAAAAAGGGTCTTCTATAAAGGGTCCATTGAAGTGTATGACGTGTGTCCTGACTAATGTCCTGTGTTGCTCCAGTGCTGTGCGTTCAGCAGTCGGCTGATGGGACGGGGTCATTACGTGTTTGACAGACGGTG[G/A]GATCGGGTGAGGCTGGCGCTTCACTGCATGGTGGAGAAACACGTCAACTCTCTGATGTGGAGGTGCAGAACACACACACACACACTGATTTCTTTTATCTTTGCCATGATGACAGCACATAATATTTGACTAGATATTTTTCAAGAGACTAGTATTCAGCTTAAAGTGACATTTAAAGGCTTTTTTTTCCTCATTGTACAGTTGAAACCAGAGGTTTACATAAACAATAAAAAGGCTCATAACCATTTAAAAAAAGGCAGATGTTAATGTGACTAAACTTTTTCTCTTTTAGGCAAGTTAGGATTATCACATTTGTTGCTGTTATGCTTAATAGCCGAATAATAAAAGAGATATTTATTGAGAAATTGTTGTTTACAAGCAATAAGATTATTCTGCCTCTGAAAAAGCTCAGATGATGATGTCAAAGTTTTGGAGGTTTCTGATTGGCTAATTGACAACATTTGAGTTAATTGGAGGCACAGCTGTAGAATAGTATTTAA
Associated Phenotype:
Not determined