ZMP
CCDC46 (1 of 3)
Ensembl ID:
Description:
coiled-coil domain containing 46 [Source:HGNC Symbol;Acc:28514]
Human Orthologue:
CCDC46
Human Description:
coiled-coil domain containing 46 [Source:HGNC Symbol;Acc:28514]
Mouse Orthologue:
Ccdc46
Mouse Description:
coiled-coil domain containing 46 Gene [Source:MGI Symbol;Acc:MGI:1923673]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13621 | Nonsense | Available for shipment | Available now |
| sa12279 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13621
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 |
|---|---|---|---|---|---|
| ENSDART00000113030 | Nonsense | 15 | 331 | 1 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 56418623)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 55597644 |
| GRCz11 | 3 | 55849253 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTCCAGATGGAGAAAGTAGAGGCTGATCTGATTCGCTCTAAATCTCTA[C/T]GAGAAAAGCAGTGTAAGGAGTTCMGTCAYCAGTTGGAGGAGCTCCAGCAG
Long Flanking Sequence:
CCTAAACGAGTTTGGAAATATTAGATTAAAATTTGTTTTGATGGTCCATTTTTGTTGTTGTTGTTTAATACCTTTTTGTTGTTAATAGTAATGACATTCATTTTATTATTGGTTCTATTATTTTTGTTGTTGGGCTCAGAAATGCTGCAACCTTTATTTTTTCAAGGTCTGAGATTAACTCAGCTGAAAGTAAAGAGTTGGCAGAAGCTTATTTAGGTGAACTTGCCAAGTTTTGCTCATAAAACTAATCTTTCTAACTTAAATTTGATTTAGGTTAAGTAAAGTGTTCAGTGTAGTTGTACAGACATATTTACTTATTGTTTTATAGTATAGGTGTGTGTGTGTTATGAAAAAAAAAGATTGTAGTTGACAATAAAATACCATTAATTTAAATAGTATAATCCTTCCATTCTTGCTGTCTTCTTCCTACTGTAATCCACATCGCTTTCTGTTTCCAGATGGAGAAAGTAGAGGCTGATCTGATTCGCTCTAAATCTCTA[C/T]GAGAAAAGCAGTGTAAGGAGTTCCGTCATCAGTTGGAGGAGCTCCAGCAGAAATACGAGCAGCAGGTCAATTCATTTTTATTTTTAATTTAATACATGTAACAGCAAGCAACATGGCTCATTTTCAAATGAAATGCTTTAGTCTTTCTAGATAATTGGATGGACTGTTGCGCTATCAAAAATACATTATTTTCAGGTTTTAATATTCCTTATCATATCATACCATTTGGTCTCCAGATCCTTCTGATTAAAATGTAATTTGTTCTCCATTTAATCAGTCCCATGGAATGATAAAATGCTACCTTTTTATAGACGTGACTGACTGGAATGTGTCTGTTATCTTTTGTGCAATCTTTTATAAAGAATAAAATAGAATATCTTGGAATATTGTTTACCTTACAGTCTAGCAGTATATTTTATTTTATTGTTTTCCAAATAATTTGGACTGAAGCAATTTGTAGTACAAATTAGTACCACTAGGGTTTAAGAAAAGGGGTCACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12279
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 |
|---|---|---|---|---|---|
| ENSDART00000113030 | Essential Splice Site | 275 | 331 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 3 (position 56542133)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 55474090 |
| GRCz11 | 3 | 55725699 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGCTGTTGAGAAGAAGCTGATGAACCGCGAGCTGGAATACCAGGAGCAG[G/A]TAAAGTTACAAANNNNNNNNATCCCAGTGCCACTGCCCCTGRAGGACCAGGAAGAAGC
Long Flanking Sequence:
GGAGCTATTAAAGAATGAGAAAACTTAGGCTACATTCCTTTAATTAGAATTTCCAGTTTCTTTAATGTATCCAGCAGAACTGTGAGATGAGCAGTTCACATGACTGAGGCCTCACTGTCCACTTTACTGTACTCTAGTTTTCCTACTTTTCACGGTGGATCATTTGGTCTGTAGTGTACACATGTGCTAGAAACATCTGGTTCAAAGCCACAGGAGTTTTTTTTTTTTTTTGCCAGATTTTACAGTGTATTGACTATGATTGCAAAGAAAAACACTTTGCTTCGAATCGTTGCTTTCTTTGTTGAATGGTGGATTCTGTTGATCAAACTGTATTTGATACCCTCTGTTATGTATCTGCTTTCTTTATCTGTAATCTACCTAATCTAACCCTTGCTTCCCACTAATTTCAGATTCTGCATGAGCGCGTGGAGACTCTACAGAGGCAACTGAATGCTGTTGAGAAGAAGCTGATGAACCGCGAGCTGGAATACCAGGAGCAG[G/A]TAAAGTTACAAAATCCCAGTGCCACTGCCCCTGAAGGACCAGGAAGAAGCCATGTCTCCTCACTGAGTCACTGATATGCCCCCGCGCACATTTTACACATTCTCCAAGATCCGGCTTCAAGAGCCAGAGCCCTTGGCCAGGAATGCTGTCCCATTTGAGAGAGATTTCTCCATAATAACAGACCACTTTGACCTTGACTTAAAGAAAGAGATAGAGATGGAGATAATTAGCTGATTAATAGCTCTCTGAACCTGGTATGTGTAGAAACGCCCTTTTGTCCTGAAAAGCACTGGTGACCTCTCTTGACTCAGACAGTTGTTGGGATGTGCCCTGGGCTGAATATTCTGTTCAACTACAGCCGGGCTCTGGAGGGGAACAGCTGCACACGTTGGCATCTCGTTCTGTGGAAGAGCCCCGATGATGTCTTTTATCTGACTGAGAGTCAGTAGATTAGTGGTCAGACTGTGTTATGACAGACAAAGACCAGATGACTTGATGAT
Associated Phenotype:
Not determined