ZMP
tchp
Ensembl ID:
ZFIN ID:
Description:
Trichoplein keratin filament-binding protein [Source:UniProtKB/Swiss-Prot;Acc:Q1RM03]
Human Orthologue:
TCHP
Human Description:
trichoplein, keratin filament binding [Source:HGNC Symbol;Acc:28135]
Mouse Orthologue:
Tchp
Mouse Description:
trichoplein, keratin filament binding Gene [Source:MGI Symbol;Acc:MGI:1925082]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31424 | Splice Site, Nonsense | Available for shipment | Available now |
| sa26437 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa33566 | Essential Splice Site | Available for shipment | Available now |
| sa14422 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31424
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:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000051614 | Splice Site, Nonsense | 176 | 499 | 4 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 21655373)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 19368245 |
| GRCz11 | 5 | 19872045 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAAGATCACATTGTGAGTCAGTGGCAGGTTCAACAGCAAGAGAAAAAA[C/T]AGGTAAGACATGTTAAATGTCGGCACAAGCATGAATGCAACTCGGCTGCT
Long Flanking Sequence:
AAATGAAATGTAATAATATAATAATATATTATATATTTATTTAAAACCATTCTTAAAAAATTATAGAGTACTATAAATTTTGGAATAATAGTGTCACATAAAAGTCAACATTATACTTGCGCTATTAAACTCTCAAACTACAGGAATAGCTTGTTTATTTTCACTTGTAACTTTTTATATATAATTTATTATTATTATTATTATTATTATTATTATAATTGTTTCTTATTATTCATTCCTACAGAGGAATCAAGCCATGATTTTTATGAAAATGTAGTTAGACGCAAGTTGTAAGCTAATACAGCATGTGATGAGTTTCTTCCGTGACTGAACTGTAACTCTGAGCTCAGGATTCGGTTCCGAACACACGCAACCACTTCTGGAGCATTATTCAATCAGACATCTGAGTGTCTCGAATGATTGTGTGTGTGCAGGTGGAGTCAGAGCTGCACAAAGATCACATTGTGAGTCAGTGGCAGGTTCAACAGCAAGAGAAAAAA[C/T]AGGTAAGACATGTTAAATGTCGGCACAAGCATGAATGCAACTCGGCTGCTTGTGTTTGAATAATCTTACTAGACAAAGGATTGCTAGGTTCAACATCTCCAGTGTAATATAAGTCTGTTCTGTAATACTCAGGCTGATGAGAGAACTCAGGAGGAGAAACAGCGATTTGAGAATGAGTATGAAAGGACCAGACAGGAAGCTCTGGAAAGAATGAGGAAAGAAGAGGAGAACAGAAAATGGGAGGAAAAGAAGCGAGCTGAGGAGCTCCTTAAACAGATGGAGGAGCTCAAACTACGGGAACAGGAAGTACGGAATTACTGTAATACGCACTTACACTAGCCTCCCTTTGAATTTATTATTATTTTTTTATATTTCCCAAATTATGTTTAACAGATCAAGGAAATTTTACAGTATGTCTGATAAGTTTTTTCTTCTGGAGAACTTATTTGTTTTATTTCAGCTAGAATTAAAGCAGTTTTAATAAAAAAAAAAAAAAATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26437
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000051614 | Essential Splice Site | 272 | 499 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 21656396)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 19369268 |
| GRCz11 | 5 | 19873068 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATGAGAGGAAGATGATGGAGGAAAGCAGAAGGAAAACGGAATTTGGG[T/C]GAAAAATTTAGACTTAAATATTGTATGTGTTAAGGGATTTATTTCTTTAG
Long Flanking Sequence:
TTAGCTATATTTGTTTTCGATTGTCTACAGAACAAACCATCATTATACAATAACTTGCCTAATTACCCTAACCTACCTAGTTAACCTAATTAACCTAGTAAAGCCTTTAAATGCCACTTTAAGCTGTATAGAAGTGTGTTGAAAAATATCCAGTCAAATATTATTTACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTTTTAAAACTATTATGTTTAGAAATGTGTTGGGAAAAAAATCTTTTAGTTAAGCAGAAATAAAAAAATTGTCACAACAACCTATTTACCAAAACAAATGCAAAGATCGTAAGGTTAAAGAAGCAGCATCAAAAGTATGTTTTTCATTTGTTCCATTTCTTCTACATGTTTCAGGCTGAGCGTCTTAAGCAGGAACAGGAAACTCTGATGTCCAAACGTTGGGAGCTTGAGAAGCTTGAGGATGAGAGGAAGATGATGGAGGAAAGCAGAAGGAAAACGGAATTTGGG[T/C]GAAAAATTTAGACTTAAATATTGTATGTGTTAAGGGATTTATTTCTTTAGCAGCAGTGTTTCTATAGTTAAATAATTTCTACACTATGCAAACTTATTCATTTTTCCAGATCTTTTTATTAAAATTTTTGTCAATAAAACAACAATTTCAAAAATATTTTAAAAAACAGAAACAAATTATCTTGGCTTCAATAAAGCCCCCTGCTAGAGATCTAATCCTGCTCCTGCCAGGTTTTATACCGCACCCAACCACTCCCGCTGTATATTCAGCCTTTGTTCACCAGCTGCCCGATCCACCCTGTTTCATACCCGACCAGACCGTTCCCGCTAAATTTAGATCTGGTTTCCAAAATCTCGTGTTAAAATTGGGTATTACCAAAAGACTCACACACACACACACATACACTACGGACAATTTAGCTTATTCAATGCACCGAACATCCAATCTTCTCAGAGAAATGCGATCTGACCCAACCGGTGCTTGAACCAGCGACCTCAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33566
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000051614 | Essential Splice Site | 380 | 499 | 10 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 21659265)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 19372137 |
| GRCz11 | 5 | 19875937 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTAAATGTAGTCAAATTTGTGACCGTTAGTTTGTGTGATATTTTTTGTC[A/G]GGTCCTGGCAGGTCGTCAGCAGCAGTTGCAGGAGCGAATGCAGGAAAACA
Long Flanking Sequence:
TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTAATATTAATGATAAAAGAATTATAATAATTTATAATATATCATATATAATAATATAAACATGTATATATAATTTGGAATATATAATAATGATTACAAATCTTTTTACTAAGAAAAGGTTGAAACCTGGTGGTTTGAATGATAGCAGCAAAGTATAAATATAATTCAATTTATTTGTATTTTGGGGCTGCACTTTGATCCTTAAATACTCATTTGAAATGTATTATATACTACTATATACCGTAGTCAACATCTGAAGTGAATCGAAAACATTTTTCAAAATAGTTTTAAGATAAGAAAGCGTATTGTTCAACAGATGTAGGACAACTTTGATGAAAGGTGATGATCCACTTTAAATGTTGATTATTATATGGATATAAACAAAATATTAAATGTAGTCAAATTTGTGACCGTTAGTTTGTGTGATATTTTTTGTC[A/G]GGTCCTGGCAGGTCGTCAGCAGCAGTTGCAGGAGCGAATGCAGGAAAACAGGCTGGCGAGAGAGGAGTCTCTGCAGAGGAGAGAAGAGCTCCTCCAACAGCTGGAGCAGGACAGACTCACTCTGCGCCTGGAGAAAGAGCAGCAGGAAGGACTCCGGACTGCTCGCATACAGGAGATCGATAATCAGGTCTGCATAATAACACTAACCTGCACACTCACTTCAGTTATCCACAGCGGTGTCCAAAACATCTCTTCATGCACTTTTATAGTGTGGTGTCTGCCATTTTATAGTCCAAATTATTTGTGAAAAACATTTGATTCATGTTTATTTGTGTAGCTCTTTTCACAATAGTAATCCTTTCAAAGCATCTTTAAAAAAAGGTGCACATTACAGTTAAAATTGGAAAAGGAGTTGTGTAAAGAAACTATAGAAACATAGTTAATCTGCAGTCAAGGCCGGCATGTCCATAGATGCGACCTAGGCGGCAGAATAGTGACCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14422
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 |
|---|---|---|---|---|---|
| ENSDART00000051614 | Nonsense | 480 | 499 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 21662134)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 19375006 |
| GRCz11 | 5 | 19878806 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAGGGAGGAGCTTAGGCTCCAGGAGGAGGAACTTCGTCTTGAGACGGAC[C/T]GAATGATTCGACAGGGCTTYCAGGAGAGAGTGAGTGGAGATTAAKGTGCT
Long Flanking Sequence:
ACAGCACTAATATATATATATATATATATATATATGTAAAATTAAAGTGAAGCCTTTAAATGTCACTTTAAGGTGTATATTGTACCGTCATCATGGCAAAGATAAAAGAAATCAGTTATAAGAAATGAATTATTAAAACTTTTATGTTCAGAAATGTGTTAAAGAAAAAACTTTAAAAATTAAACAGAAATTGGGGAGAAAATATACAGGGGGGCTAATTAATTTTGACTTCAACTGTATATTATCTGATTATAGGGTCATGATGAAATTGTCCGCACATTTTTTTGTCACTTTAAATTCACTCATTCATTTTAGTTCCCTCTTGCCATACATTCTAAATGTGTCAGACACAGCCAGTGTCTTCAGTACACGTGTTTGTCCAACAGGTGGAGCAGAGACGAAAGGAGCAGTGGGAGCAGCAACAAACACTAGAACAGGAAGAAGCACAGGAGAGGGAGGAGCTTAGGCTCCAGGAGGAGGAACTTCGTCTTGAGACGGAC[C/T]GAATGATTCGACAGGGCTTCCAGGAGAGAGTGAGTGGAGATTAATGTGCTGTGAAGAGGCAGCATGTAAACTGTGATTTGTTCATTTCATGTCTATATTAAAATGTGTTGTTTTTTTTCATCATGGCAGATTCACAGCAGACCCCGGTCAGCATGGACATGAGGGCACATTCACAGGAAGACAGTTTGTGTCACACCCCCCTTTTCAGATGCTAGAGGAGTTTTTTTTTCTAGCACTGTTTTTAATCAAATCAGGGGGATATCTGTGTCCATGTTGATCTTGGCCACTTTGTGCTTCAAATGAGAGCCGGTTTTCTGTTCAGAGATGTCATAAATAGTTCATGATTTACTTCATGGCAATTAAATAAATAAAAGTTTAGGGAAGTTCAAATGTTTTTGTTGCACTTATACTGAAGTTTGCATCCAAGTCCATTTTTATATGTAGATTGTTTTGTAAAAATGTCAGTGCTGACAGTTTTTTCAATAAATTCACAATGTCAT
Associated Phenotype:
Not determined