ZMP
trps1
Ensembl ID:
ZFIN ID:
Description:
trichorhinophalangeal syndrome I [Source:RefSeq peptide;Acc:NP_001171405]
Human Orthologue:
TRPS1
Human Description:
trichorhinophalangeal syndrome I [Source:HGNC Symbol;Acc:12340]
Mouse Orthologue:
Trps1
Mouse Description:
trichorhinophalangeal syndrome I (human) Gene [Source:MGI Symbol;Acc:MGI:1927616]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa29269 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa9881 | Nonsense | Available for shipment | Available now |
| sa9617 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa29269
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 |
|---|---|---|---|---|---|
| ENSDART00000056809 | Nonsense | 249 | 1243 | 3 | 7 |
| ENSDART00000098145 | Nonsense | 249 | 1243 | 4 | 8 |
| ENSDART00000141851 | None | None | 615 | None | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 47472897)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 45983071 |
| GRCz11 | 19 | 45578136 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCCCAGACGCAGGCCAAAGAGTCAGCGCGTGTCCTGGGGCAGCCGGTG[C/T]AGAGCGGGTCTGTGGTCGAGGCTGGGTCACCCAGAGCTTCAGTGCTCAAC
Long Flanking Sequence:
TACTTTTTTTTTTTTTGAGTGCAGAAGGTGAAGAAGACTGTCTTAAAATCTCCACCCGGGCCAGCGGTGTCATCGTACAAAGCTGCACCAGTAACGGAGAAGAAAGGGACGTCACAGGAAGCCCTCCATCATTGCTTAGCTCTGACAGTCCTGTTGACGAAACCCTGGATATCTCTAAAGTTCCTCCAGTCACGCTTCACCCACAGCGGCCCGTCGGAGGAGCTGAAAACGCCCACAGTCCTCTAGGAGGTGAAACCGGGGCGCCTCCAGCCTCCTCTCCCAAACTGCAAGACTTTAAGTGCAACATTTGTGGATACGGTTATTACGGCAACGACCCCACGGATCTGATCAAACACTTTCGTAAGTACCACCTAGGCCTGCATAACCGGACGCGGCAGGACGCAGAGCTGGACAATAAGATTCTGGCGCTTCACAATATGGTGCAGTTCACAGCCCAGACGCAGGCCAAAGAGTCAGCGCGTGTCCTGGGGCAGCCGGTG[C/T]AGAGCGGGTCTGTGGTCGAGGCTGGGTCACCCAGAGCTTCAGTGCTCAACGGCACCTACGATGTACAGGTAATTACAAAAAAAATCAGGCTTTTCTAAATTAATAGCTTAACTAAATTTTTAACTAAATTAATAACTTACATTTTAAATACATAACTTATTTATTCTGTACTGTAATAAAAACAATACTACTACTGAAATAAATAATTTTATAGCTGTGGTAATTTTACATTGATCATAATTAAATATAAACAATACAAAAATATTGACTTTATCAATTTAATATTTACTATATTAGTGGTCAGCCATTATTGGCGTTAACGCAAGACTCTTATCGCGCGATAAAACAAACATCACTGTTAATCTATTCTCAAAATTGGGTTGGGAGCTGGGTCTATTCTACACTAGCTATGATGACTTTCACCTTGATATTTCAGCGCGGATATAAACCTGGCTAAATTGCACTGTATGTGCGTATTCCTACTGTGAAATTACCTCATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9881
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056809 | Nonsense | 957 | 1243 | 7 | 7 |
| ENSDART00000098145 | Nonsense | 957 | 1243 | 8 | 8 |
| ENSDART00000141851 | Nonsense | 329 | 615 | 3 | 3 |
| ENSDART00000056809 | Nonsense | 957 | 1243 | 7 | 7 |
| ENSDART00000098145 | Nonsense | 957 | 1243 | 8 | 8 |
| ENSDART00000141851 | Nonsense | 329 | 615 | 3 | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 47138963)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 45781028 |
| GRCz11 | 19 | 45376854 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTATCACGAGCAGAGGCCCAAGTCAAATACGAGGCTTACGGCCCCTCT[G/T]GAACCAAAAGTCACCCCAGTCCCCGTTCCACACAYGCTTTCCTCGTCAAC
Long Flanking Sequence:
CATTTGTCATTGTATTGATGTGACAAACACATATTTAAAAACTGTAAAGGGGCTATTTGTTTATATTCATAAGTACAACAGAACAATATGTTTTTTTATAAAATTTGTAAAACTCTGCTTTGCAATAAAAAAAGTTGCTTTGTCTTTCCGATTCTTCTGTCAACACAACTGGCACATGTGAAAAAATATAGTGAATATATTAAAGCCTTATTCGGTTTATCAAGTGTGTTTTCTAATCTTAAATATTTCTCTTGCAGACCCCCAGACCGCTGAACATAATCAAGCAAAACAACGGTGAGCAGATCATCCGTCGACGGACACGAAAGCGCCTGAACCCCGACCCCATGCCATCAGAGCAGGTGGGCTCCAAACAGCAGCGGGTCAACAGCGAGGAACGTCTGAACGGGAGTCCCTTAGAAAGGAGGACAGAAGACAACGGATCCGACGGATCTCTATCACGAGCAGAGGCCCAAGTCAAATACGAGGCTTACGGCCCCTCT[G/T]GAACCAAAAGTCACCCCAGTCCCCGTTCCACACACGCTTTCCTCGTCAACCAGACGCTGGAGATCCACAAGCGTATGCCTCCGCTGCATATGCACAAGAGTCCAGTGGACGGAGGATCCGCCGAGGGGAACGGGCTCAGTTTAGGACCCCAAGGCGCAGATGGGAAAGGTGGATCAGAAAGAGGCAGTCCAATCGAGAAGTACATGCGTCCATCAAAACAAGCTAGCTACTCTCCGCCTGGAAGCCCCATCGAGAAATACCAGTATCCCATCTTCAGCCTGCCGTTTCTCCATAACGACCTGCAAAACGAAACAGACTGGCTGCGCTTCTGGACTAAATATAAGATGTCTGTTCCGGGAAACGCAGCAGGTCACTATTTGAGTGCTGGACTTCCTAATCCGTGCCAAAGCTTCGTGCCTTATCCTGCCTTCAGTTTACCGCCTCACTTTCCACCTCCGACAGCTTCTGGACCCGAAAGCGATACTCCTCTTGACCTGGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9617
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056809 | Nonsense | 957 | 1243 | 7 | 7 |
| ENSDART00000098145 | Nonsense | 957 | 1243 | 8 | 8 |
| ENSDART00000141851 | Nonsense | 329 | 615 | 3 | 3 |
| ENSDART00000056809 | Nonsense | 957 | 1243 | 7 | 7 |
| ENSDART00000098145 | Nonsense | 957 | 1243 | 8 | 8 |
| ENSDART00000141851 | Nonsense | 329 | 615 | 3 | 3 |
Genomic Location (Zv9):
Chromosome 19 (position 47138963)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 45781028 |
| GRCz11 | 19 | 45376854 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTATCACGAGCAGAGGCCCAAGTCAAATACGAGGCTTACGGCCCCTCT[G/T]GAACCAAAAGTCACCCCAGTCCCCGTTCCACACAYGCTTTCCTCGTCAAC
Long Flanking Sequence:
CATTTGTCATTGTATTGATGTGACAAACACATATTTAAAAACTGTAAAGGGGCTATTTGTTTATATTCATAAGTACAACAGAACAATATGTTTTTTTATAAAATTTGTAAAACTCTGCTTTGCAATAAAAAAAGTTGCTTTGTCTTTCCGATTCTTCTGTCAACACAACTGGCACATGTGAAAAAATATAGTGAATATATTAAAGCCTTATTCGGTTTATCAAGTGTGTTTTCTAATCTTAAATATTTCTCTTGCAGACCCCCAGACCGCTGAACATAATCAAGCAAAACAACGGTGAGCAGATCATCCGTCGACGGACACGAAAGCGCCTGAACCCCGACCCCATGCCATCAGAGCAGGTGGGCTCCAAACAGCAGCGGGTCAACAGCGAGGAACGTCTGAACGGGAGTCCCTTAGAAAGGAGGACAGAAGACAACGGATCCGACGGATCTCTATCACGAGCAGAGGCCCAAGTCAAATACGAGGCTTACGGCCCCTCT[G/T]GAACCAAAAGTCACCCCAGTCCCCGTTCCACACACGCTTTCCTCGTCAACCAGACGCTGGAGATCCACAAGCGTATGCCTCCGCTGCATATGCACAAGAGTCCAGTGGACGGAGGATCCGCCGAGGGGAACGGGCTCAGTTTAGGACCCCAAGGCGCAGATGGGAAAGGTGGATCAGAAAGAGGCAGTCCAATCGAGAAGTACATGCGTCCATCAAAACAAGCTAGCTACTCTCCGCCTGGAAGCCCCATCGAGAAATACCAGTATCCCATCTTCAGCCTGCCGTTTCTCCATAACGACCTGCAAAACGAAACAGACTGGCTGCGCTTCTGGACTAAATATAAGATGTCTGTTCCGGGAAACGCAGCAGGTCACTATTTGAGTGCTGGACTTCCTAATCCGTGCCAAAGCTTCGTGCCTTATCCTGCCTTCAGTTTACCGCCTCACTTTCCACCTCCGACAGCTTCTGGACCCGAAAGCGATACTCCTCTTGACCTGGCC
Associated Phenotype:
Not determined