ZMP
ankrd54
Ensembl ID:
ZFIN ID:
Description:
Ankyrin repeat domain-containing protein 54 [Source:UniProtKB/Swiss-Prot;Acc:Q6DGX3]
Human Orthologue:
ANKRD54
Human Description:
ankyrin repeat domain 54 [Source:HGNC Symbol;Acc:25185]
Mouse Orthologue:
Ankrd54
Mouse Description:
ankyrin repeat domain 54 Gene [Source:MGI Symbol;Acc:MGI:2444209]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31331 | Nonsense | Available for shipment | Available now |
| sa31330 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31331
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000078137 | Nonsense | 224 | 315 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 3 (position 26995711)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 25908525 |
| GRCz11 | 3 | 26039396 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTTCTGAATGTCTCTTTAGGTGCTCGTGTTGATGCTCTGGATCGTGCT[G/T]GAAGGACTCCTCTCCATCTCGCCCGCTCCAAGCTCAACATCTTGCAAGAG
Long Flanking Sequence:
CATGTGTAATAATAAGTAATTAGAGTTAATAAATAAACGTTTCTTAACTTTTATTGAAATATATTTTTAGGGATTGAATGGCTGTTGACCCGATTAGGTATAGCTTTACATTGACATAGGAAAATAAAGATTGAAATTGAAAAGAAAAATGATTTAAGATTGAAAAAAAAAATGATTTAAGATCTACGACACAATATTTTAGTGGATTTAAAACTTTTTAGGGCCTAAAATTTGGTTTTTGAAATTTAAGACATTTTAGGACTTTTTAAGACCACGCAGAAACCCTGATAGTAGGAAATCAATTACTATGGATGTAGCATTTTTCTGTAGTGTTCAACAGATGAAAGAAACTCAGACAGGTTTTGAATGAGTGAAGGGTGAAAAAATGAAAACAGAACTTTTGGATGAACTATTCTTTTAACATCCCCTATTCACAAATGTAATTCATTGTGGTTCTGAATGTCTCTTTAGGTGCTCGTGTTGATGCTCTGGATCGTGCT[G/T]GAAGGACTCCTCTCCATCTCGCCCGCTCCAAGCTCAACATCTTGCAAGAGGGAGACTCGCGTAGCCTAGAGACCCTCAGAGGAGAGGTCACACAGGTATCGAGCACATGCTTAATCAAATTTACACACAAACTTTTTCTAGAAACTTCAAGTTGAGCATATGGCATTTACACTTATGAATGTGTTTAAAAGGGCTGCACTGTTTAGCCCACTTAAAGATTAGTTTACCCAAAAATAAAAATCTTGCCATTAATTCCAATGCATTCTAATCCCCAAGACGTTTGTTCATCTTTGGAAGACAAATTCAGATATTTTAGATTCAATCTGAGAGCTCCATCGTCCTCCATAGACAGCAATGGCCCGAGATGTTCAAAGTCCTGAAAATGAACCAAAAAGGCAAAAGATTTCATGTGACTTTGGTTCAACTGTAATATAAAGCTTTAAAAACACTTTTGTGTGCCAAAAAAAAATTTAGTAACTCAATTTAACCAAAGCAATCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31330
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000078137 | Essential Splice Site | 291 | 315 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 3 (position 26992455)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 25911781 |
| GRCz11 | 3 | 26042652 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTAGAGCACATCTCAACCCAGCTGCAGAACACCCGCACCAGAGAACAGG[T/G]AAACACACACATCTGAGATCTAACACAGCCCTTTAATAATGTACAAACAG
Long Flanking Sequence:
GGTTTCAAAATATTTAAATCTGCTTTTATTCTAGCCAAAACAAAACAAATAAGCCTTTCTCCGTAAGAAGAAATATTAGAGGAAATACTGTTAAAATTCCTTGCTCTGTTAAACATAATTTATACATTTTTTTAATTGTCAGGAGTGCTAATAATTTTGACTACAACTAATCGTTTGGAATAATCATGATTACAATTATGACCAAAATAATCGTGATTATAATTGTTCCCAAAATCGAGCAGCCCTATTTTGGCAGCAGTTATATGCAAAAATGAGCAAACATTCAGATAAATTCCTTATTAATGTTTATGATCCCTACGATCCTATTTTACTGGACATTTATATGTGCTGTAATAGACAATTAATGGATGATCTCTGGGTATGTTTGTAGATCATTCAGATGCTGAGGGAGTATCTGAATATAATGGGACAGAGTGAAGAGAGGGAGAAACTAGAGCACATCTCAACCCAGCTGCAGAACACCCGCACCAGAGAACAGG[T/G]AAACACACACATCTGAGATCTAACACAGCCCTTTAATAATGTACAAACAGCACCCCAATGCACTACAAGCTAAATTCAAGCAACGATGGTGTGATACCAATTAAAACCACATTACGGCTAAATAAATTCACTTAGGCTAAACAATGATGTTTAATATTACTTGATTTAAATGTTCAAACAGCTTATAATAAATGCATTAATGTTGCAATAATATGTATTTTTTGATACTGAGTAAAAATGCAACCCAGTTTTGCATTTATTTGTGCATTAAATTATAATGGTTATTATAGCCTAGGAAAGCCCACATAGAAAATGTGCCGGCAGTATTCCACAGTTCGTTCAATCTATTTATTTACTCAAGTAAATGTGTGTAAATATACATTTAGTCAGTTTATATATTGATTTAAGTAATATCATTAAACAATATGCAAATGTTTAGATCATTTATAAATAATAGTTATTGCAAAGTACTATTTTCTGTCTTGTAGTGGATGTATTAT
Associated Phenotype:
Not determined