ZMP
LOC100001132
Ensembl ID:
Human Orthologue:
CCDC17
Human Description:
coiled-coil domain containing 17 [Source:HGNC Symbol;Acc:26574]
Mouse Orthologue:
Ccdc17
Mouse Description:
coiled-coil domain containing 17 Gene [Source:MGI Symbol;Acc:MGI:1915667]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33891 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33891
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000122070 | Essential Splice Site | 114 | 490 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 6 (position 33598220)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 33915885 |
| GRCz11 | 6 | 33900575 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACTCAGGATCTCTTTTGAACAAAACCTGGCAGGAAAACACACTGAGG[T/G]CAGTTTCAGTAGCCTAAAGCTTTTAAAATCTGGTCCTAATGTGAATACTG
Long Flanking Sequence:
CTATGCATGTAGGTTCAGTAATTTCACTTGTATGGCAAAGAATAAATTCTTTTCAAGTTCTTTAAATTAGAATAACTCAACATAACAGAAGACTGCAATAAATGGGACTTATACAGTCTTTTTTACATCTGAACTCTTCATATATAAATATAGGACATTATTTGAATTTTTATTCTTACTAATTTCATTTTATAATTTACAAATTGTAAAAATTAAGACTTCAAACAAGAAATAATCCAGTCAATTTGATTTTCCATTGGTCAGCTCAAAGAAAAAAGAAGAGATGATCAGACTGAAAAGGAACAAGACAAAGCACAGGACAATGGGCCTCACAATACAGCTCTAAACAAACTCACTGAAGAGGTAGACAAGCACACACAAACATAACAAATCTCACAATTAACCAAACTAGCTTTGTACTACAAAGTCTGATGTGACGTTTTAGTTCCAAAAACTCAGGATCTCTTTTGAACAAAACCTGGCAGGAAAACACACTGAGG[T/G]CAGTTTCAGTAGCCTAAAGCTTTTAAAATCTGGTCCTAATGTGAATACTGTGATTGTGTGTGTGTTATTATGTATATTTGACAATGGGTAAGTGTTGTTCAGGTCTCAAAGGAGCAGTGTTTAGTCCAGCAGAGGAATGATGAGCAGAGGTATAAAGATCATGAGCAGAGACTGGCTGAGATCAGAGCTCGCAACCTTCAGCTGGAGAAGGACAGAGAGGGTAAGCTTTTCCTTAATGAATGACTAAAACTGGCATACAGGTTAATAATAATAAAATTATAAAATAATAATAAAATTAAAGATTTTAAGCATCAGGTCCTTCATTTTTTTACAACCATAAAAAAAGAAACTCACAGGTTTTTGAAAAATGTAGGGTGAGTCGGCTAAATGATTACAGAATTTTCAGTTTTAGGTTAACTATTTCTTTAATTTTAACAATAGTTTAGCACATACAGTAGAAGTCAGAATTATTAGCCCCCCTGAATTATTAGCCCCTCTGT
Associated Phenotype:
Not determined