ZMP
LOC570141
Ensembl ID:
Human Orthologue:
KBTBD13
Human Description:
kelch repeat and BTB (POZ) domain containing 13 [Source:HGNC Symbol;Acc:37227]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44335 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa1331 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa44335
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000013044 | Essential Splice Site | 450 | 461 | None | 3 |
| ENSDART00000125073 | Essential Splice Site | 411 | 422 | None | 4 |
Genomic Location (Zv9):
Chromosome 25 (position 30599773)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 29167134 |
| GRCz11 | 25 | 29610141 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGGAATGGATCTGTGTGGACATTTCTTCTCAGGATTCCAAAAGAGAGG[A/T]AAGAAGTGATTGTGTCTTAAATTGACTGAACCTTAGTAACCATGTTAATG
Long Flanking Sequence:
CCACAAAGGAGTGGACTTTTGCAGCACCTTTACCTCGACCGGTAGCGGGGATCGCATGCACCAATGCCATGAGCCGAATATTTGTGTGTCTTTGGAAGCCGATGGACACCAATGAAATCTATGAATACATCCCAAAACAAGATGCATGGGTTCTGGTGAGTACCCTTCTGAAGCACCAGAGCTATGGACACTGTATGGTGGCCCACAGGGACAACCTTTATGTCATACGCAATGGTCCCAAAGATGATTTCCTGCGCTGTTTGATGGATTGCTACAACATCACCACAGGGCAATGGACATCAATGCCTGGGCACTATGGCAATAGCAAGGGGGCACTGTTTACATCTGTAGTGAGAGGAGACTCAGTGTTCACACTGAATCGCACCTTGACTCTGGAATACACCATTGCGGGAAACATGTGGAAACCTTCTAAGCAAATGAAGGGGTTTCCAAGGAATGGATCTGTGTGGACATTTCTTCTCAGGATTCCAAAAGAGAGG[A/T]AAGAAGTGATTGTGTCTTAAATTGACTGAACCTTAGTAACCATGTTAATGGCAAATAAAACATATATACTTTTCATTGTAGCATTTTATTTTGCCTCAAGGCCATAAATGTATAATTTGATTAAGTTAAAGGATAATTCACACAAGAAAAAAAAATTATGTTCTATCACCATTTACTCACTGCCACAATATATAAAAATGGCCTGACTTTCTTTCTTGGAGAAGACAGCAGAAGATAATTGAGTAAATATCAGGTTATATTAATTTAATCAAACGGCTCATGGTGGGTTTTTCTTGGAAAACTGTGACACATGGTGAATTTCCCTTGAAAACAGATAGCTGCATGGAGTTTATTGTTGCAAAATAAAGCATTTCTATTTATTTTTAAAGCTTTACTTTGCAACACAGTACATCAGCCTACATTTCTGTGATATCACAAAAACATACTTAAACATGTTTGACTGCAGTCTGCAGTTTAAGATATTAATGCAGTATGACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1331
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 |
|---|---|---|---|---|---|
| ENSDART00000013044 | Nonsense | 460 | 461 | 3 | 3 |
| ENSDART00000125073 | Nonsense | 421 | 422 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 25 (position 30599587)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 29166948 |
| GRCz11 | 25 | 29609955 |
KASP Assay ID:
554-1245.1 (used for ordering genotyping assays)
KASP Sequence:
ATTCACACAAGAAAAANNNNTTATGTTCTATCACCATTTACTCACTGCCA[C/T]AATATATAAAAATGGCCTGACTTTCTTTCTTGGAGAAGACAGCAGAAGAT
Long Flanking Sequence:
GACACTGTATGGTGGCCCACAGGGACAACCTTTATGTCATACGCAATGGTCCCAAAGATGATTTCCTGCGCTGTTTGATGGATTGCTACAACATCACCACAGGGCAATGGACATCAATGCCTGGGCACTATGGCAATAGCAAGGGGGCACTGTTTACATCTGTAGTGAGAGGAGACTCAGTGTTCACACTGAATCGCACCTTGACTCTGGAATACACCATTGCGGGAAACATGTGGAAACCTTCTAAGCAAATGAAGGGGTTTCCAAGGAATGGATCTGTGTGGACATTTCTTCTCAGGATTCCAAAAGAGAGGAAAGAAGTGATTGTGTCTTAAATTGACTGAACCTTAGTAACCATGTTAATGGCAAATAAAACATATATACTTTTCATTGTAGCATTTTATTTTGCCTCAAGGCCATAAATGTATAATTTGATTAAGTTAAAGGATAATTCACACAAGAAAAAAAAATTATGTTCTATCACCATTTACTCACTGCCA[C/T]AATATATAAAAATGGCCTGACTTTCTTTCTTGGAGAAGACAGCAGAAGATAATTGAGTAAATATCAGGTTATATTAATTTAATCAAACGGCTCATGGTGGGTTTTTCTTGGAAAACTGTGACACATGGTGAATTTCCCTTGAAAACAGATAGCTGCATGGAGTTTATTGTTGCAAAATAAAGCATTTCTATTTATTTTTAAAGCTTTACTTTGCAACACAGTACATCAGCCTACATTTCTGTGATATCACAAAAACATACTTAAACATGTTTGACTGCAGTCTGCAGTTTAAGATATTAATGCAGTATGACACTAACATGCACACTAATTATATTCACAGATTCATATTATCTACGAACAAAGGATTATTTTCATGTACTTACTAACAGTGTCAACAGTTTGTAACTGAATGCACTTGCCTGACATATCTATTTCTATTAAGCCATGGACACACTGCTCTTTCGCCCCATAGACTTCCATTCGTATGCATGTGAATGCAA
Associated Phenotype:
Not determined