Busch Lab

ZMP

LOC563998

Ensembl ID:
ENSDARG00000086484
Human Orthologues:
AC005838.1, AC005838.2, CDRT1, FBXW10
Human Descriptions:
CMT duplicated region transcript 1 [Source:UniProtKB/TrEMBL;Acc:Q9BXD7]
CMT1A duplicated region transcript 1 [Source:HGNC Symbol;Acc:14379]
CMT1A duplicated region transcript 1 protein [Source:UniProtKB/Swiss-Prot;Acc:O95170]
F-box and WD repeat domain containing 10 [Source:HGNC Symbol;Acc:1211]
Mouse Orthologue:
Fbxw10
Mouse Description:
F-box and WD-40 domain protein 10 Gene [Source:MGI Symbol;Acc:MGI:3052463]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa22156 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa22156
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123825 Essential Splice Site 191 731 6 12
Genomic Location (Zv9):
Chromosome 12 (position 37131881)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 35854587
GRCz11 12 36527328
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGTGTTGGCAATAAAGAATATTGTGCTTTAATTCTCTACTGCTTTTGA[A/G]GGTGCTGGAACCTGAAAACAGGCATGTGTATGATGATTTTTCATGGACAT
Long Flanking Sequence:
GACCAGTTGGCTTTTCTGTGCAGAGTTTTTATGTTCTCCCCGTGTTTGCAAAAGTTTCCTCTGGGTCCTCTGGTTTCCCCCACAGTCCAAAGACATGCACTATTGGTGAATTGGATAAGTTAAATTCTCTGTAGTGTATGTGTCTGAATGAACGTACTGTATGGGTGTTTCCCAGTGATGGGTTGCAGCTGAAATGGCATCTGCTGCACAAAACATATGCTGAATAAGTTGGCCATTCATCAGCTGTGGCGACCCTATTTAATAAAGTGACTAAGCTGAAAAGAAAATGAATGAATGAGATAAAAACACCATTGTTAGGTTTTTTTTGTTTGTTTTGGGGGGTTGGGGGGCTTAAAATTTTAATTCACTTAAATTTGTAAAAATGAATCAGATAACTTAATCAATTGTGTTAGGACAACATGTAGAAATTGTGTGGAACCCAGCATTTTTACAGTGTTGGCAATAAAGAATATTGTGCTTTAATTCTCTACTGCTTTTGA[A/G]GGTGCTGGAACCTGAAAACAGGCATGTGTATGATGATTTTTCATGGACATTTTGGGACTATAAACTGCCTTGATTTGGTTGGAGATAGGCTGGTCTCTGGAGCCAAAGACTGTAGAGTTAAAGGTAAGTGGCTTTGATTTGAATGATGCTTTTTACAGGAAATTCACACCAGGCACAATAAAAGTCAATTTTAGAAGTTCATAGCTAATATGATAATATTAAAGAGGATAAAACTGTAACAGTTATAATATGAACTGAAACTGAATTTAAAGAAGCAACTTTCACAATGTCATTATGGGGTATTGTTTATAGAATTCTGGTAAAAATAATGTATTTATAGCATTTTGGAATAAGGCTGTCACTTAACAAAATTTGGAAAAAGTGTCTGTCAATAATTTAAGGATGCATTCTATACAGTGAAACCAAAGTTATTAGCCCTTCTGTGAATTTTTTTTCTTTTTCAAACATTTTCCAAACAATGTTAAACAAAGCCAAGATTT
Associated Phenotype:
Not determined