ZMP
ccdc53
Ensembl ID:
ZFIN ID:
Description:
WASH complex subunit CCDC53 [Source:UniProtKB/Swiss-Prot;Acc:Q5RGJ6]
Human Orthologue:
CCDC53
Human Description:
coiled-coil domain containing 53 [Source:HGNC Symbol;Acc:24256]
Mouse Orthologue:
Ccdc53
Mouse Description:
coiled-coil domain containing 53 Gene [Source:MGI Symbol;Acc:MGI:1914532]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6938 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6938
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 |
|---|---|---|---|---|---|
| ENSDART00000066999 | Essential Splice Site | 109 | 200 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 4 (position 16725795)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 17668635 |
| GRCz11 | 4 | 17657611 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAACGGCCCCGCAGCAGATACCAGTCGTGCCACTGCTCCCCCTGCTGAGG[T/A]AACCTTTCACAGTATTATAAYAATAATAATATCATGATCCCATTTYAATG
Long Flanking Sequence:
ATGAACTGATGATGGGGTTTGCTTTTACAGAAACTCTCCACAGTATCACTGCGAATTCAGCAGATTGAGACAACACTAAGCATTTTGGAAGCAAAGGTGAGTCAAAACAGGATTCTTATTATGGGATAAGAAGAGAAAATATAGTAGAAGTAAATGATTTGAAATATGAAGCATTAGTTTGAAGCAAAAAAAAACGTAAATATCATAAAACATTAATAAATTATTACAAAGTATTAGTAAGTTAGAATTAACATGGAAATAAAAAATAAGGTTAAGACAATGTGTGTGTATATATATATATATATATATATATAAATAATACAAACTGATTAAAACAATATATATATAAACATAATTTAATGAGTAATATTTATGTGTAAATGTGCAGTTGGCCTCTATTCCTGGTCTGGAAGAAGTGACAGTGGATGGAGTGAGAGCACCTGCAGAGACAAACGGCCCCGCAGCAGATACCAGTCGTGCCACTGCTCCCCCTGCTGAGG[T/A]AACCTTTCACAGTATTATAATAATAATAATATCATGATCCCATTTCAATGCCCATATGAAATGCGAATTTACAATGTTAGTGCACAGTGTTATGCTTAAGGTGAACAATTAACAATAATAATCAAAATCTGGCCATTTGCTTTGCTCTGGAATGGCAGTCCTCCTCTGATGTCAGTTTGAAGGCTTGAGTGAAATATCCTTACCCACGCCCCTCTAGCCATTACTTTGCTATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAATTGGCAAAAATAAAACCCTGCCCCCTACTCAGTGTTCCCTTTTAATTTGTAAATACACCATTATACTGATCATTTGAAATTCTCCAGCACCTTCCAGTTCACGCAGACTATAATGCACAGTTATTTTTTATTCAGGCATCCCAGCAGACACAAGCGGCCCCTCAGGAGCCAAAAACAGAGGCTCCAGCAGA
Associated Phenotype:
Not determined