ZMP
TTC12
Ensembl ID:
Description:
tetratricopeptide repeat domain 12 [Source:HGNC Symbol;Acc:23700]
Human Orthologue:
TTC12
Human Description:
tetratricopeptide repeat domain 12 [Source:HGNC Symbol;Acc:23700]
Mouse Orthologue:
Ttc12
Mouse Description:
tetratricopeptide repeat domain 12 Gene [Source:MGI Symbol;Acc:MGI:2444588]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12186 | Essential Splice Site | Available for shipment | Available now |
sa17289 | Nonsense | Available for shipment | Available now |
sa24981 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa12186
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079413 | Essential Splice Site | 110 | 710 | 5 | 23 |
Genomic Location (Zv9):
Chromosome 15 (position 20910007)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 22012633 |
GRCz11 | 15 | 21948365 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GMATTGTCAGKTTGCAACATCTAGATTTRCYTYGTCCTTATTTGATCCAC[A/T]GTGCTAAGGGAGCAAGGGAATGAGGCTTTCACTCAAGGTGACTATGAAAC
Long Flanking Sequence:
AAAAGCACATTTAGAGTACACTACTGTTTTTTTTTTTTTTTTTTTTTTTTTTGCGCAGAACATCCGATATGAGTCGAGTCAAAATCCAGGTATGTTTGAGTAACGTTAAGTCTTTTCACACCTCTGTGTTGGACACTTGACAAGACTTCTCAGTCTCTGTTAAGTAATTTAGTTCAAGTGTAAAACTTGAATGCCTTCCCCTGAAGTCTTGTAAATGATTTATAAATCAATACAAAATAGCCAACCTTTATCTTTTTGCTTTTTTCATAATAAATCTTGCAATGGAATGTTTTACCCTTCGATTCGTCAGAAAATTTCTTAAAGATTTTAGAAAAAGATGCTGAAGACAGATGTCAAAGAAGAAAGATGAAGGAGGAAAGAGCTAATGGTAGGCACACTAAAGCCTGAAGAGCAAAAAGGCCATTTTTGTATGCGTTTTATTTATTGATTGCATTGTCAGGTTGCAACATCTAGATTTGCTTTGTCCTTATTTGATCCAC[A/T]GTGCTAAGGGAGCAAGGGAATGAGGCTTTCACTCAAGGTGACTATGAAACGGCTGTCAGGTTTTACACTGAGGGCTTGGAGCAGTTGCGTGATATGCAGGCTCTCTATACAAACAGAGCTCAGGTACTTCTTCAAGTTTTTGTACAATAATCAGATTACTCGTATATTCCTGTGAGGCTGCTCCTCTTGTGATTTTATTGTCTCATACATTCATGTATTATGTAGGCCTTTATCAAGTTGAAGAGATATAAGGAGGCCATAAGTGACTGTGAATGGGCTCTGAGGGTGAGTAAAGCAGTGGGAAAGAGGTCAGAGAAGTGCCCCCTCATTTTTCAGTGTCAGCCGAAGCAGAGAGTTTCTCATCCCACCTTGTCTGGTGAGAACAGCAGGCTCCAAAGAGCAGTGCCTATTCAACTGGATAGTTGCACAGAAGTAGAAAATTAGGTTGCAGTTCCTTCTGAGCTGTGACAATAGTCTTTGCTTTTGGAAAACTTTTTAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17289
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 |
---|---|---|---|---|---|
ENSDART00000079413 | Nonsense | 142 | 710 | 5 | 23 |
Genomic Location (Zv9):
Chromosome 15 (position 20910104)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 22012730 |
GRCz11 | 15 | 21948462 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAACGGCTGTMAGGTTTTACACTGAGGGCTTGGAGCAGYTGCGTGATATG[C/T]AGGCTCTCTATACAAACAGAGCTCAGGTACTTCTTCAAGTTTTTGTACAA
Long Flanking Sequence:
GAGTAACGTTAAGTCTTTTCACACCTCTGTGTTGGACACTTGACAAGACTTCTCAGTCTCTGTTAAGTAATTTAGTTCAAGTGTAAAACTTGAATGCCTTCCCCTGAAGTCTTGTAAATGATTTATAAATCAATACAAAATAGCCAACCTTTATCTTTTTGCTTTTTTCATAATAAATCTTGCAATGGAATGTTTTACCCTTCGATTCGTCAGAAAATTTCTTAAAGATTTTAGAAAAAGATGCTGAAGACAGATGTCAAAGAAGAAAGATGAAGGAGGAAAGAGCTAATGGTAGGCACACTAAAGCCTGAAGAGCAAAAAGGCCATTTTTGTATGCGTTTTATTTATTGATTGCATTGTCAGGTTGCAACATCTAGATTTGCTTTGTCCTTATTTGATCCACAGTGCTAAGGGAGCAAGGGAATGAGGCTTTCACTCAAGGTGACTATGAAACGGCTGTCAGGTTTTACACTGAGGGCTTGGAGCAGTTGCGTGATATG[C/T]AGGCTCTCTATACAAACAGAGCTCAGGTACTTCTTCAAGTTTTTGTACAATAATCAGATTACTCGTATATTCCTGTGAGGCTGCTCCTCTTGTGATTTTATTGTCTCATACATTCATGTATTATGTAGGCCTTTATCAAGTTGAAGAGATATAAGGAGGCCATAAGTGACTGTGAATGGGCTCTGAGGGTGAGTAAAGCAGTGGGAAAGAGGTCAGAGAAGTGCCCCCTCATTTTTCAGTGTCAGCCGAAGCAGAGAGTTTCTCATCCCACCTTGTCTGGTGAGAACAGCAGGCTCCAAAGAGCAGTGCCTATTCAACTGGATAGTTGCACAGAAGTAGAAAATTAGGTTGCAGTTCCTTCTGAGCTGTGACAATAGTCTTTGCTTTTGGAAAACTTTTTAGAAAGTTCTAAATTGTTTTTAGGTTTGTATATGTATACACTCACTATTAGGTACACCTGTCCAACTACACGTTAACGCATATTTCTAATCAGTCGAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24981
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 |
---|---|---|---|---|---|
ENSDART00000079413 | Essential Splice Site | 387 | 710 | 12 | 23 |
Genomic Location (Zv9):
Chromosome 15 (position 20925911)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 22028537 |
GRCz11 | 15 | 21964269 |
KASP Assay ID:
554-7877.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACTCAGCACGGTAGAGAGCTGATCATCCACAACCTGGATTCACAACAG[T/A]ATGTGTTTTTGAGGTCATATCGATGATGATGATGATGTGCCATAAATTAA
Long Flanking Sequence:
AGACCTTGAAAATGAAAGATGCTGTGCTGAGGAAAAAGTAGCAATCCCATTTACACATTGATGTTTTTTTCCCTCTTAAACCCACCTCTCTCTTAAATACATCAATAGTTCTGCTTTTCACCCAAAGTAATGAGGATTCGTGAAATTGTCTAAATCCAAGTCGATATCAATTTATCCTCCTGTTTCCTGCTAGTAGTGAAATTGTCATTACCTTTCACATTAAAATCTCTTTAGTAAGTGCTCTGTGTCCTTCAGTAAAATCTCATTAACTGGTCAACTAAATCTGCATTTGTCTTTATTAAAGCCTCTCCATAATTGTGTTCCTTCCAGAGCAAAACCAGCAGCTGTTGATGGAGTGTTCCAGCGCTAGACAACACATGGTCCAGCTGTTGGCTTCGCCCTTTCATGAAATACACACTGAAAGCCTGCAGTTGCTCAGCATGTTTGCACAAACTCAGCACGGTAGAGAGCTGATCATCCACAACCTGGATTCACAACAG[T/A]ATGTGTTTTTGAGGTCATATCGATGATGATGATGATGTGCCATAAATTAATTATTTATTATAAAACAGAAAACATGAGCTGAATGAGCAGTTTGAACTTATGTATAGTTCAAATTTACGGCTAATTTTGTGAAACTAGATGCCACGTTGCTGAAATTTAAGAAAATTATAGATAAATGGTAAAGTTGGATGTAGCAGTAAATTGTACTACGTTTAGGTTAGGGTAAGGGCCGGAGTGGGAGTCCTTTTCAGCCCTGAAGTTCCAAGCCTTAGACCGGCCTACCTCAGTTCACGACTGACTATATTAAAATAACGTAATTTCCAATTCAGTTTCTAATGACACTATCACGTCTTTTTCAAGGACACTTGAAACATCACAATGTCCGTTCTTGTTTTAAATGACTTATAAACACTGCATATGCAGCGCACGTGATGTATTTGAGTGCATCTCGAAAAATGACGTCTCATCTGCGCCCTCAGAATCATTGCAATACATGAGAG
Associated Phenotype:
Not determined