ZMP
NP_956917.1
Ensembl ID:
Description:
WD repeat-containing protein 46 [Source:RefSeq peptide;Acc:NP_956917]
Human Orthologue:
WDR46
Human Description:
WD repeat domain 46 [Source:HGNC Symbol;Acc:13923]
Mouse Orthologue:
Wdr46
Mouse Description:
WD repeat domain 46 Gene [Source:MGI Symbol;Acc:MGI:1931871]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38222 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38223 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38222
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023316 | Essential Splice Site | 63 | 164 | 2 | 5 |
Genomic Location (Zv9):
Chromosome Zv9_NA913 (position 23700)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 53203692 |
| GRCz11 | 8 | 53082271 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAACCCCACACAGAGAAGAGGAAGAAAGAAGAACGTTTACTGTCAGGGG[T/A]AAAAGTTTTCTCTTTGCTAATTAAGCTAAAGTTGGTTTTATATTTACACA
Long Flanking Sequence:
TTTATTAACTATTATTTGACATATCAAAGTACCATTGGGATATCGGTTAAATTGTTTGTCTGTTAGATTTGGTTATTGTTGGGTTTAAATTAACTTAATAGATATTTTTGCATCATTTTAATAATTGTAGTTGTTTTTTTTTTTACATTTTTATTGGATAGCAAAGTTCTAGAAAAGAGAAGTAATTTAAAAACTATATAAATAGTTTACTGACATATTTTATCTTAATAAGTTTATATTTTAACACTTCAAAAACCATTTGGACTCAATTTTGTCACCATTCCTATTGCTAATGGTCATCTGTATTCAATGAAAGACCGAAAACAGATGATTTCTGAACATGCTTGTGTTTTTACTCACTCTGAAGCCTGCAAAGCGCTATTGGGAAGAAACAGAAAACACAGAGCAAAACAAAGCAACCGAAGAGGAGAGTAAAGATGAGCAGAAGCAGAAACCCCACACAGAGAAGAGGAAGAAAGAAGAACGTTTACTGTCAGGGG[T/A]AAAAGTTTTCTCTTTGCTAATTAAGCTAAAGTTGGTTTTATATTTACACATTCGTTAATATTTGGATGGTTTGCAGGCCAAAAGTTTGTGAAAGTCAGTATTTCAGCAGCTCTTCTGATTGGTTGTTTAGAAAGAAGACCCTTTTCCTGGAGAGAAGCCGATCCCACAGAAGCAGCTGCGCACGTTTCAGAGAGGACAGAAACACAAAGTGGTGAGTCATGAATCGACATTTAGGGCTCGACGATGTGGACCACAATTCATAATACAAATTCTGCTATATATTTATTAGTGTCCACCGATGTGCTTTTGCGTTGCAGAAGAGTTCTTCTTTTAGTCTGCCTCATAATAAAGTATGCATTGATGCAATGTGTCTGACAATGCTTAGAATATAATACAGCGTAATATAACATCTATTATAATATAGTGAGTTTTGAGTAAAACCATCATTATATGTGGTATTTGCATGTGCTTTTCAGGTTTAACATTGGCAACAAAGAGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38223
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 |
|---|---|---|---|---|---|
| ENSDART00000023316 | Essential Splice Site | 90 | 164 | 3 | 5 |
Genomic Location (Zv9):
Chromosome Zv9_NA913 (position 23913)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 53203905 |
| GRCz11 | 8 | 53082484 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCACAGAAGCAGCTGCGCACGTTTCAGAGAGGACAGAAACACAAAGTGG[T/C]GAGTCATGAATCGACATTTAGGGCTCGACGATGTGGACCACAATTCATAA
Long Flanking Sequence:
CATATTTTATCTTAATAAGTTTATATTTTAACACTTCAAAAACCATTTGGACTCAATTTTGTCACCATTCCTATTGCTAATGGTCATCTGTATTCAATGAAAGACCGAAAACAGATGATTTCTGAACATGCTTGTGTTTTTACTCACTCTGAAGCCTGCAAAGCGCTATTGGGAAGAAACAGAAAACACAGAGCAAAACAAAGCAACCGAAGAGGAGAGTAAAGATGAGCAGAAGCAGAAACCCCACACAGAGAAGAGGAAGAAAGAAGAACGTTTACTGTCAGGGGTAAAAGTTTTCTCTTTGCTAATTAAGCTAAAGTTGGTTTTATATTTACACATTCGTTAATATTTGGATGGTTTGCAGGCCAAAAGTTTGTGAAAGTCAGTATTTCAGCAGCTCTTCTGATTGGTTGTTTAGAAAGAAGACCCTTTTCCTGGAGAGAAGCCGATCCCACAGAAGCAGCTGCGCACGTTTCAGAGAGGACAGAAACACAAAGTGG[T/C]GAGTCATGAATCGACATTTAGGGCTCGACGATGTGGACCACAATTCATAATACAAATTCTGCTATATATTTATTAGTGTCCACCGATGTGCTTTTGCGTTGCAGAAGAGTTCTTCTTTTAGTCTGCCTCATAATAAAGTATGCATTGATGCAATGTGTCTGACAATGCTTAGAATATAATACAGCGTAATATAACATCTATTATAATATAGTGAGTTTTGAGTAAAACCATCATTATATGTGGTATTTGCATGTGCTTTTCAGGTTTAACATTGGCAACAAAGAGCTGTAGTGTACTGAGAAGCTACCTTAGCGGCTGTCAATATTGCAGAATTATTATTTGCATGAAATGTTTTGCACAGCTTGTCAGAAAACTATGGCTCTGTGTAGTAAGCATGAAATTGAAACTTGAAATTGAGCACCAGAACAATCACATTTTGTGAGTATGAATCCCCTAGATGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Associated Phenotype:
Not determined