ZMP
fxn
Ensembl ID:
ZFIN ID:
Description:
frataxin, mitochondrial [Source:RefSeq peptide;Acc:NP_001076485]
Human Orthologue:
FXN
Human Description:
frataxin [Source:HGNC Symbol;Acc:3951]
Mouse Orthologue:
Fxn
Mouse Description:
frataxin Gene [Source:MGI Symbol;Acc:MGI:1096879]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa11321 | Essential Splice Site | Available for shipment | Available now |
| sa16490 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11321
Status:
Available for shipment
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:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113008 | Essential Splice Site | 6 | 169 | None | 6 |
| ENSDART00000142577 | Essential Splice Site | 37 | 200 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 11381355)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 11287769 |
| GRCz11 | 8 | 11325474 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGTTACCAACAAATCTCCAGACTGTCAACAAYGAGCAGTGGACTTAATG[T/C]AGGTGAAGTTAAAACAAACATCTCTGACTGGTTAGCATGAATGGATTNNNNNNCTT
Long Flanking Sequence:
ATATATTGAAATCATATAAACATATATTGATTATTGTTCTTAAATTGATAGAATAAAAAAACTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCAAATAATAATGTCCACTGTAAAAAAATGAGGGGGGCGGGGGAAGAAATAAATTGTAAAAAAAACAGAAAAGAAAAGGAAATAAAACAATAACAAATGTGCTTTTATTTTGTTAGGACCTCTATTTTGAAATGGCACGAGCACTGACAACGCGCGCGCGTGCAATCTGACTAGCCGCTGGACACTTGCATCCTTTCTGTAGTCATGTCAAGGTTAACTATTAAATATTGTCGTTTGTATCAACTGAGCTTGAGCTCCAGATGGAAATGTTACCAACAAATCTCCAGACTGTCAACAATGAGCAGTGGACTTAATG[T/C]AGGTGAAGTTAAAACAAACATCTCTGACTGGTTAGCATGAATGGATTCTTTACCTACATATCGCTTTTATCATATAACGTTAACGTTTGTGTCGTGAATGTCTCTTTTTTAAATACTATTTCAGAGAGTCAAAGCGATTAAATTAGTCAGAGCTTAACTTAGGAGCTTAACTTAGTTTACTTGGAGTATAAATCCTAAAACTTTGCCTGTTGCATTGAGGTAATTGCAGTTTTTTTGGATTGCTTAAGCACGATTTTAAAAACAGGGCCCGTGTTTTCAAAACAGTACACACAATTAGCACAACCACACACCCAATTAGCAAAACATTACAGATCCTTTGCATAATTAAACACTCTTATAAAAACTATAGACTTCTGTTTAAAAACCACACTTTTTTACCATAAGAAACACACATTTTCACATTTACCATACACTGTTTGCACGAGTTACACACTGCTGTGATAAACCTAAAACACTTTTAGCACTTCTACTTCCCTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16490
Status:
Available for shipment
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:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113008 | Nonsense | 58 | 169 | 4 | 6 |
| ENSDART00000142577 | Nonsense | 89 | 200 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 11377229)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 11291895 |
| GRCz11 | 8 | 11329600 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTAACTATTGCAATGRTTGTTTTGTATAGAGAAATATCAGAGGCCGAGTA[T/A]GAGAGACTAGCAGAAGAGACGCTGGATGCATTAGCAGATTATTTTGAAGA
Long Flanking Sequence:
GTGACAATTAAGGGATTACTTGGTCATAAAACAAAGTATTATAATATCAAATTCTACAGATGCCCTGTAATTGGCTCTCATGGCACAATATTTGTAAAATTCACTGTACATTTAATTTGCAATAAATATACTGATTTGAGATTTATTATTATGTTTGGTGAAGTATGTTATCTAAAACTTTCATTACATACAGACAGATAGATAGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAAATAGATAGATTGATAGACAGACAAGTAGCGCAAAGTATTTTTGATTCAGAAATCATTATAATACTATATTTTAACACAAACAGCTATTAATAAAATCTCTTGGTTTTTTTCCATCATTATCACACTACTGCTGTCATTTCCTTAACTATTGCAATGGTTGTTTTGTATAGAGAAATATCAGAGGCCGAGTA[T/A]GAGAGACTAGCAGAAGAGACGCTGGATGCATTAGCAGATTATTTTGAAGATCTCACAGATGAAAACTTCACTGGACTGGACTATGACGTCGTCTTTTCTGTAAGTACACATCTTATTATCACATGCTTGCAAATTAAATGCCAGTAATGCTTGAACAGTCTAAAAGTCTGTTTTGCCTTGATATCCAGTAGGGGTCATTATTGGTCTAAAAACTGAAATGTTTTCAGTCAATGAAATTATGAAATCTGAATTGTATATTTGAATTATGGGCATTTAAGTTGTTTATTTAGATAATTTTTTGTTAAATATAATAATACTGTCATATAGAATAAAAATAAGGGTGTGGTTGGTTTATTCAAAAATTATAATTTTGTTCTAATTTACCTTTTGTGTTGTTTCAAGCCTTTATGAATTACATTTTTACCAAGCATGTTGGTAATTTAACTGTTTTGCAGTTGCAGTCAACATCTGTAGAATTATATTAATAACAAGTTTTACTT
Associated Phenotype:
Not determined