ZMP
Q6DG47_DANRE
Ensembl ID:
Description:
LOC553231 protein [Source:UniProtKB/TrEMBL;Acc:Q6DG47]
Human Orthologue:
CCDC88C
Human Description:
coiled-coil domain containing 88C [Source:HGNC Symbol;Acc:19967]
Mouse Orthologue:
Ccdc88c
Mouse Description:
coiled-coil domain containing 88C Gene [Source:MGI Symbol;Acc:MGI:1915589]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2919 | Splice Site, Nonsense | F2 line generated | Not yet available |
| sa45617 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa5633 | Nonsense | F2 line generated | Not yet available |
| sa23144 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa2919
Status:
F2 line generated
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:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062010 | Splice Site, Nonsense | 555 | 1997 | 14 | 30 |
Genomic Location (Zv9):
Chromosome 17 (position 38827346)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 38712243 |
| GRCz11 | 17 | 38659828 |
KASP Assay ID:
554-3145.1 (used for ordering genotyping assays)
KASP Sequence:
AACAGAGAATGGAGAAAACTTTGGAGACAATYCAGGCAGAGAAAGAYAGA[C/T]AGGTGAACATCWAAAGAAAGAMAAGTAAACCCATGATGATWAGGGKTATA
Long Flanking Sequence:
CAAATAAAAAAGAAAAACAACTTAACTAAAACAAAAGGTAAATTAAAAGAGAGAATAAAGAGAATAACATAATTTTTTGTCACTCCAACTACAGCCCGTAAGTCATTTGTGTTTGAGCTGAACGAGTCCGCATCCAGCCGACTGTTGAAGCTTGAGAAGGAAAACCAGTGCCTTCAGAGCACCATTCAGGAACTGAGAGAGGCCTCCATCAACATGGAGGAAGGTCAGCTGCATTCACTGGAGCTGGAGAAAGAGAACCAAAGCCTCAGCAAGAAGGTACATTTCTATATTTATTTTACTGTTGACTGAGAGCCAGAATATTGAATGCTAACGAATATTGAATGCTCATCTGTGTTGTGTTTTAGTTGGAGCGTCTGCAGTCCCAGTTGGACCAGGAGAAACAGACAACTCAGGACATGGAGAACCTTGGAGAGGAGCTAATAAAAGAGAAACAGAGAATGGAGAAAACTTTGGAGACAATCCAGGCAGAGAAAGATAGA[C/T]AGGTGAACATCTAAAGAAAGACAAGTAAACCCATGATGATAAGGGGTATAATATGGTATCAACTTAAGTGGTATCTAGTAAGACTGTTTTTCCAATGTCTACTTTGATTGCAACTTAAATGCCTCTGTTGTTGATTGAAATCATAGACCTGTGTCAAGACTCGAAAACATGCTTCTGTACTGTATATGAAGACATCAATAAGCTACATTTTCTGTCAGTAACCTATAAGTAAAAGAAAATGGGCCTGAAATCTAAAACTCTCGATGCACTTTAAATAAAAACTGAAACCGAAAATGCTTAATAATAACTATTTATATTTCCATCAATAATAAAATGTAATGTTGTAACTCTTTCTAAATTTAACTTGAAACATATTGATAAAAATATATAACTGCATTTTATTGACTGTCAAAGAGTTAAGAGGTGTCATTTATACGAGTGTTGCTTTCACTGCACAGTAGGGCTATGGCAGGCAGCAGGAACAAGTATACTACATAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45617
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062010 | Nonsense | 629 | 1997 | 15 | 30 |
Genomic Location (Zv9):
Chromosome 17 (position 38829554)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 38714451 |
| GRCz11 | 17 | 38662036 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAACGTCAAGTGACTAAAGAGCTGGAATCTCTCCGCGAAAGAGGAGAG[C/T]GATGCGAGGAGTTGGAAAGGGAAGTTCCTCGTCTAGAGAGAGTCCGGGAG
Long Flanking Sequence:
TGGCGCAAAGCAGATTTTTCCATCCTTAAAATAGAAAAAAGTGGATTCTGATACGCCCTTAATGCTTTTGCGCCCTGCGCCTTGGACTTTGCGCCTAGATCGCTAAAATAGAGCTCTTAAAGTTCATCCAGTGTCTTTTTGTAGGTCCTTTTTTAAGTGTCAATTTAAAAAGTATTGATTTACCACTGGTATTGTAACAATCGAAAAGACATCCAATGATAATGATGATCATATTTGAATGGCTTCATTAACACCATGTGTATTTTTGTTTGGGATATTAGATCTCAGAGTTGGAACAGGAGAAGGAGCACCTGACCCAGGCCGTGAGCTCCCTCCGGAAGCGGGCTCAGGCAAACAGCGAGGCCCGAGTGAGGGAGGTGGAAACAGAAAACCGCATTCTGCATCAGACTATCTCTGAAACGGGTGGTAAACTAGCTCGTCTGGAAGCTGAGAAACGTCAAGTGACTAAAGAGCTGGAATCTCTCCGCGAAAGAGGAGAG[C/T]GATGCGAGGAGTTGGAAAGGGAAGTTCCTCGTCTAGAGAGAGTCCGGGAGCAGCTACAACGGGAAGCAGCAGCCTTGAAGATCGGAAGCGAGCGTGCCGAAGCCTTGGAGCGGGAGAATGCCACTCTGGAGCAAGACAATCGCAGACTCAAGAAGTTGGCCGACACTGCACAGAATGCCACCCTGCGTCTGGCTGTTTTAGAGAAGGATCACCAGCAACTTGAGGAGGAGAACTTGGAGCAGCGTCGTGCATTGGAGACCCTCCGTCCAGCAGCTGCACGCTTGGCTCAATTACAGCAGGAACATGCAGAGCTGGAGCGAGAACACGAGGAGATGTGCCGCACGATGGAAGAGCTGCGTTCTCAGGCTAAGAGGAGTGAAAGACTAGAGAAGAGCTGTGGAAGCCTGAGTCTAGAGAACCAACGGCTGCAACAGACTCTGGAGAACAGCTCCACCAAAATGCAAGGTCTAGAAAGTGAACTGAGGCAGAATGAGGCAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5633
Status:
F2 line generated
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062010 | Nonsense | 1429 | 1997 | 25 | 30 |
| ENSDART00000062010 | Nonsense | 1429 | 1997 | 25 | 30 |
Genomic Location (Zv9):
Chromosome 17 (position 38856355)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 38741252 |
| GRCz11 | 17 | 38688837 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATTCATYAAACCCAAGAAAGAAAGTTCACGAGAGAGACCAGACGCTCCA[C/T]GAGAAAGRATTMGAAGTGCTCCAGACATYCCTCTTCCGGAGATCCCCWCA
Long Flanking Sequence:
AACTACAATCTACGTTGTTTGTTTTCAATACTACAATGCGAAAACAAAACTTTTGGTTTTTCACTTTTCATTGTGGTTTCAAAAAATACTGTAAATATGAATATATTTGAGCGGGAACTAAAAACAAAAAGAGATTTAGGAATTGTGCTCCAAATGTCTTGATACTAATCGTTTATTTCTTCTTGCAGTGATAAGCTGAATTCATTACGACGACAGAAAGAAAAACTCGAGGAGAAGATCATGGACCAGTACAAGTTTTATGACCCAACTCCTAAAAAGTGAGTCCATTACTTACATCTAAAATCTTCTCAAAGTAAAAGTTTGTAGTTTCAGGCCCTTTAATTTATAAAATTAAGCTTCTCTTTGCTAAGTGTAAGAGGCTGTTTTAACATTTGTACTTTTAATCTTAACACAGGAGTCGTCAGTGGGTTGGAGCCAAAGCTATAGCAAAATTCATTAAACCCAAGAAAGAAAGTTCACGAGAGAGACCAGACGCTCCA[C/T]GAGAAAGAATTAGAAGTGCTCCAGACATTCCTCTTCCGGAGATCCCCACATGTATAGACTGTCCTGAAAGTGCACCACCTCCTCCCCCTCCACCACTGCCTCCCAGACAGTCCCGTCCTAGTCTGGACTCCATGAACAGTCAGTCTGTGGAGGAGAATCACGTACAGTCACCAACCCTCTCTTCTCCTGCCCTCAACGGCCGAGGTGAGTTCTCAACCAAGAAAAAATACAATCATTTATATGTCGTCCAAACCATTTTACTCGTAGAGATCTGACGATCCCTCCCTTTTGCATCCAGTGTAAACAGAATCGGTGTTTGTGAGAAGTTTTATTGTCGCCACAATGTAGCATTATTTGTAGAAAAGTAATTTCTCTAGCAGACATTTAAACGGGTCACAGAAACTTTAATCAAGAAATGATGACGTACATATTGTCATTTTACTGCTGTAGCAATATGAAAAATGCAGTGCTCAGCATGTACAGTATGAGTACCCCCCAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23144
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062010 | Essential Splice Site | 1615 | 1997 | 29 | 30 |
Genomic Location (Zv9):
Chromosome 17 (position 38875403)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 38760300 |
| GRCz11 | 17 | 38707885 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGCATCTCACACTGTACAGCTCATGGTTTATTCTCCTGTTTTCCTCCA[G/A]GGTCTCTGGATTGTCTGCAGGGCCGATCTGCCAGTCTGTCCAGTGATGAT
Long Flanking Sequence:
AGTATATGAATGAAGTGTTGTCCCAATCAGAGTAGTTTGATGGTTGCAAAATCAGTTAAATAAATGACCAAACTACCAAAGGTGCTATAATCACCCAAGTAGGAGAATTTGGCTTTCACAATTCAACATAAATGTAATCCAGAGCCGATAGCTCAGCCCCTTTTGAGACGTGAGCAAAGCTGCAGCCGTTGAGTGTGTGAAGTGTCCAACAATCCACACTTAGTTTTAATGGTGGAATAAGTGCACTTATATCAGCAATACTAATATAATGAACTAATATTTCTGTGTGAATGTGTTTTTATAAAAGAAGATGGCGTAGAATAGTGCATAAGTATCCAATTTGGGACAAACTTGAGCTGAAACTTTACAGACACATTCTGGAGACGCAAAACACTTATATTAAATCTGAAAAAAGGGGTAACCTAGGTGCCCTTTAAAGTCCCCATTTTCATGGCATCTCACACTGTACAGCTCATGGTTTATTCTCCTGTTTTCCTCCA[G/A]GGTCTCTGGATTGTCTGCAGGGCCGATCTGCCAGTCTGTCCAGTGATGATGTGGTTGGACTGGCTCACGAAGGCTCTCGTCTCAGTCAGTCGTCTCTTCTTCCTCGTAGCTCCACTCTTCCCTGTGATTCCCCGTCTGCTTCACGCCCCTCCCAGAGGCCTGCGTCCCGCCGGCCGTCCTCTCCGGGCAGTGAGATGGTCACTCTGGAGGAGTTCCTGCAGGAGAGTAATGCCCTCTCACCACCCACTGTAAGTCCTTTGCACACTTACTACACCTAAACGCTTCTCAAAAAACGTTTTTGTCCTCCCTGCTGGTTTGACCTTTGAATAGGCATTTATTTGCAGGGGAGTTTAAAATGAATCATACATGGAAGGATGCGTCTTCTCACTTTGTTTTTTTTTTTTAACACCTCAAAGGGTTGTGTGTATATTTAAGTGTGTATTTATGCAGAGTGAATGGAATCTTCTCACGTTTAACTGATAATCTCTAGAGGGATTTTT
Associated Phenotype:
Not determined