ZMP
wdr48
Ensembl ID:
ZFIN ID:
Description:
WD repeat-containing protein 48 [Source:UniProtKB/Swiss-Prot;Acc:Q6PFM9]
Human Orthologue:
WDR48
Human Description:
WD repeat domain 48 [Source:HGNC Symbol;Acc:30914]
Mouse Orthologue:
Wdr48
Mouse Description:
WD repeat domain 48 Gene [Source:MGI Symbol;Acc:MGI:1914811]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19892 | Nonsense | Available for shipment | Available now |
sa13821 | Nonsense | Available for shipment | Available now |
sa11526 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19892
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000056248 | Nonsense | 28 | 677 | 2 | 19 |
Genomic Location (Zv9):
Chromosome 2 (position 50378033)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50073565 |
GRCz11 | 2 | 49807795 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAATGTGTTTACAGGTTTCCTATGTGATTAGAGATGAGGTGGAGAAGTA[C/A]AATCGTAATGGTGTTAATGCTCTTCAGCTGGATCCTGCTCTCAACAGACT
Long Flanking Sequence:
CTACTTACAGCAGGTTAACGCACCATGTCACAAAGCATGAATCATTTCAGACTGGTTTCCTGAACATGACAAAGAGTTCACTGTTCTCAAATGGCCTCTACAGTCACCCCTTTTCAACCAAATAGAGCACATTTGGGATGTGGTGGAATGAGAGATTCGCATCATGGATGTGCAGCTGACAAATCTGCAGCTACTGCGAGATGCTATCATATGAACCACGATCTCTGAGGAATATTTCCAGTACCTTGTTGAATCTATGCCACAAGGATTAAGGCAGTTCTGAAGGCAAAAGGGGGTCCAACTCGGTACTATTAAGGTGTACCTATTAAAGTGGCCGGTGAGTGTAGGTATATAAAATATACAAGGTGTCACTGAGCGAATGTGCGAACATAAAACCACCTTTACCTCAATGGTAGCATGCAATTGTCTAATAAATTTGGGTTATTAATATTAATGTGTTTACAGGTTTCCTATGTGATTAGAGATGAGGTGGAGAAGTA[C/A]AATCGTAATGGTGTTAATGCTCTTCAGCTGGATCCTGCTCTCAACAGACTCTTCACAGCCGGCCGAGATTCCATCATCCGGATATGGAGTGTCAATCAACACAAAGTGATTTATCTTAAACGCTTTTTGTGATTTACTTAGTGATTTTTATTTAGTAGTTTTTATTTACTTTGTATTTTGAGCAACAATGTTAACTTTACATTTAGTTCAAAGTCACAAGTCATTCAAATTTTGTCTGTAGTTCTGCATATGGTCAACTGTTTGTGAAAAATCCAAGTAGCTACTGTTTGCTCTCACAGCAGGATCCTTACATTGCTTCAATGGAGCATCACACCGACTGGGTGAATGACATCATCCTCTGTTGTAATGGAAAGACATGTAGGTCTGAACATTTCAGATGTATTTGAAAAAAAATTAATTATGCTGGATTTTCATCAAATATATATTCTGTGTTGTAGTGATTTCAGCCTCTTCGGACACCACAGTGAAAGTCTGGAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13821
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000056248 | Nonsense | 523 | 677 | 15 | 19 |
Genomic Location (Zv9):
Chromosome 2 (position 50396880)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50092412 |
GRCz11 | 2 | 49826642 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTCCAGGTTCCACCACACACTCCYGTGATCTTTGGTGAAGCAGGAGGG[C/T]GAACRTTATTTAGGTCAGAATAACTATGATATAGTGACTAWGACTTTTCA
Long Flanking Sequence:
TGGAGTTTTGGCCCAGAACTCATATAAACCCAATGGAAGAGGAGGAAAATGAGCTCAACCATGGTAGACATATTCACTTTTATAATGGCTTTTATTTTAAACCCTAGACTATATATTGAATCAATAATCAACATGTGCAGCTGTTCAGAATTTAAGTTTCAATAGCAATACGTTTTTTATTAGTTTTTTCTATCAATACATTTTAGTTATGCATATGTCATATTTGATGAAACTATGCTAAATCCACTGAATTCTACAAAGGATGCATATTTATTCTTGTACTCTAGTTGTGCAGTGTATTGTCTCCAGTCTAATTATTTCTGAAATTCAGATGTCTTTTTTTAAACACTACCTCTATACAGTACAGTGGTTTCTGACTAATCATCTTCTGTGTGTTTTTGTCTGCAGTAAACGGTGAACAGGAGAGTCGAATTCAAAAGGGCAATGGCTACTTCCAGGTTCCACCACACACTCCTGTGATCTTTGGTGAAGCAGGAGGG[C/T]GAACATTATTTAGGTCAGAATAACTATGATATAGTGACTATGACTTTTCAACTTGGTTGGATGGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGACTAAGACTAAGACTACAGATAGATAAGACTATAATTTGATTTAATTTTTAAAATAATTGGACTTTTCTTTCACAGAACTTGTCTTTTTACAATCCGTTTTCACTGCAATTTTAGGTTATTATGCCGTGATTCTGGAGGAGAGACGGAGTCTATGTTACTGAATGAAACCGTACCTCAGTGGGTTATCGATATCACTGTAGATGTGAGTGTTTCAAATTTCACAATCAACTCAATAATTTGTTTTTGATTGCATGTTAAAGATTGCATATTATTTACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11526
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000056248 | Nonsense | 673 | 677 | 19 | 19 |
Genomic Location (Zv9):
Chromosome 2 (position 50403637)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50099169 |
GRCz11 | 2 | 49833399 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGTGAAGCATTTCATCTGGAAGAGYGGAGGAGACCTGACCATTCACTAT[C/T]GACAGAAATCCACATGAAGACCTCYAATCGCTGTACAGAGCCCGTCACGT
Long Flanking Sequence:
TCTGAAATTACATTCTTCAATGATATATAGTACGATTAAAACAGTATATGAGCTGAGTAGTATTTCCAAATTTGAAAAACATTATGCAAGAAATTCCCGAATGACTTCAAGCGAGATTCTGAAGTGCACATTGGATAAACGCTATGCTATCCCATGATGCACCACGAGAGAATTCCAGCATGGGTCAGTCACGTAATCATGACAAAATGGCGTATGGCAAAATGTAGTACGTCCGAGTTTCCTTTATATTGCTCACATTCATATTGTGTAGAACATACCTTTCTAATGGTGAAGTTGTACATTCAAATTCAGTAATAGGGGATTTTGGATGCAGCCAGTGAGTACATTTTTGTTTTTGGGTGAACTGTCCCTTTAAATTAATTTGTGATTTGTTTTTAACAAATGCTTGCTGTATTTTACAGGTCTTGGATCCAAACATGGACCTCAGGACTGTGAAGCATTTCATCTGGAAGAGTGGAGGAGACCTGACCATTCACTAT[C/T]GACAGAAATCCACATGAAGACCTCTAATCGCTGTACAGAGCCCGTCACGTTCAACCCACATCACTCTGACTTCCAGAAGAAGCATCCCAGAATGCCCTGCTCTTCTCAGGTTTGACCGTCACCTTCAAGGAATTTTCTTTTTGTCCTTCTCTCTTTTGCAGTGGCTAAAATAACAGAGCCAGACAGTCGGTGGAAGGTTTAAGACTAGAGATTGACGCAGGTGTCATGACATGCTGTGAACTGAGACTTCATCATTCGTCTGCCTTCATTTCAGATTTTTCTTTTGTATATTTATTACTGTTGTGTTTGCGAATGTGTCTTGTCCAGCTTAACAATAATAATGATGATGCACACGTATACTTCCATTCTCAAGTCTGAAACATTCCTGATGGCGTTTCTGATGGAGATCCAGAACTGAAAACATGCTTTTTTATCGTCCCTATTTTTTTGTCCTCCACAAGTAAGCTACTTTTATTGTCTAGATTTAACAGGATGTTCAC
Associated Phenotype:
Not determined