ZMP
ptprh
Ensembl ID:
ZFIN ID:
Description:
SAP-1 [Source:UniProtKB/TrEMBL;Acc:C7U138]
Human Orthologue:
PTPRH
Human Description:
protein tyrosine phosphatase, receptor type, H [Source:HGNC Symbol;Acc:9672]
Mouse Orthologue:
Ptprh
Mouse Description:
protein tyrosine phosphatase, receptor type, H Gene [Source:MGI Symbol;Acc:MGI:3026877]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37824 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa30043 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44088 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37824
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 |
|---|---|---|---|---|---|
| ENSDART00000113212 | None | None | 217 | None | 8 |
| ENSDART00000114768 | Nonsense | 232 | 984 | 4 | 18 |
| ENSDART00000145504 | Nonsense | 26 | 779 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 24 (position 7913950)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 7771242 |
| GRCz11 | 24 | 7800561 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGAAAAAGACGAATACACTTATGAGCTGGACAAAAGTGATGCTAATACT[C/T]AAATATCATTTACTGATACTACAGTGGTGTGTCTCATCACATCTTTGTCT
Long Flanking Sequence:
TAAAGAGTTATTTTAAAGTGTCACCATATTCAGTATACTGTAGCACCAAGGCTTATTTTCTTACTTCAAATTTGTATTTTTTAAAATTCCTATGGGGGAAAGCTCTGTCTTAAAAAAGGAGAGAATCTAACAAACATGTTAATTAATAATCTGATGTTTCTATTCCGCAAATAAGCATGGAAATGATCTCGAAAATATAAATGATTGTCATATATATTTTTCTCTTTACATAGTTTTGCTATCATATACAATTAGATGCTAACAAAAAGATTGAATTTTTTTTTGTTTTTTGTTTGCAAAATAAAAATGAATGGCTTAATTGATGAACTGATGAATAGTATAAGACTTTTTTGGAAACTTTTCTGTCTTTTTCTTTTTCAGTTCCTTCTAAAATTACAGGATTTTCGGTCATTGGTCGAAGTGAGACTGCTCTAACATTTCAATGGACAAAAGAAAAAGACGAATACACTTATGAGCTGGACAAAAGTGATGCTAATACT[C/T]AAATATCATTTACTGATACTACAGTGGTGTGTCTCATCACATCTTTGTCTCCTGGGACTGAATACTCATATAACCTCTATGCTGTGTTTGAAGGAGTTAAAAGCCAAGCAAAAGGAATCTCTGAAGTAACTGGTGAGTCATTACATAAGTAATGCCAGGCTAATGTGATTCTTTGTGTTCAGGGTATTAGATCTGCTGTAATCATGCCCTCTTATCAATGAAAAGAAAATATGAAGACAACACAACAGCAATTGATATAAGTTTATTAAGATGCAGATCTTTTCTGCTACCTTGCTGGATTTTTACCTGCCCAGTCAACATTTTCGCTCACTTCACCACAAAACACAGTGATCAGTTTTTACTCTTACTGTAGTTAAAATTGCCACACACTGTTGTCACCGGGACAGTATTTTTTCAAACAATACATTTTTGTATCTAAAGCATCAAACTCAATTCCTGGAGGGCTGCAGCTCTGCACAGTTTTGCTCCAACCCTAATCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30043
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:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113212 | None | None | 217 | None | 8 |
| ENSDART00000114768 | Nonsense | 553 | 984 | 8 | 18 |
| ENSDART00000145504 | Nonsense | 347 | 779 | 5 | 15 |
Genomic Location (Zv9):
Chromosome 24 (position 7919785)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 7777077 |
| GRCz11 | 24 | 7806396 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATCTTAAGTGCGAATATCATTCTGGAGGATATGGTCTGGCTGTCATGT[G/A]GGATTATCCAGATGGAGTTGTGGATGTGGTGGAGGTGGATGTTAACAAAA
Long Flanking Sequence:
TAAATAAACAGGGGGCTAATAACTGTATATACCTTACTTCAAATTTATCTCATTTTTAAATTATTTAAATAATTATATTATGATTAAATAAACTTTTTTCCTGTGTTTTCTGCAGCTCTGGATTGTGCATCCTTTAACTGGAAAGTCACCAACACATCAATAGTTGCTGATGTGTACGGTTGCACATATGTCACGGCTCAAAACAGCAGCGGGAGTGGTAAAAACGCTTCTATAGAGGGAGACAAGGTGAATCTGCGAGACCTGTATCCTGGAGAAAGCTACACTGTTTCACTGTTTTATAACTTGGAGTCGAAGATGCTCACACAGTGCTCACAACGCCTGACATTAGGTGAGCTTAAACTCTCTGTTTTGGGCCCTGCTGCTTATTAGCTGATATTTATAATCGTTTCTTTCTCCCTTTCAAACTACTCTAGTTCCATATGTTGTATCTAATCTTAAGTGCGAATATCATTCTGGAGGATATGGTCTGGCTGTCATGT[G/A]GGATTATCCAGATGGAGTTGTGGATGTGGTGGAGGTGGATGTTAACAAAAAAAGCTTCAACCATTCGCATGGTTCAGATGAGCCAACTCAGCAGCTGGTAACAGGCCTGCAAGCTGCTCAGTGGTACAAAGTCAAAGCAACATCATTTTCTGGAGCCAGGAGGAGTGAAACTATATTGATCAACTGCCAGACTGATCCAGCAGGTAAAATCTGTCTTGTACTGTATTGTTGTATTACACAGAAAAGCCTAATAGGTTGACAAAACTAAATTAATTGAGTAAACTCATTGCCTTAATATGATTGAGTACTTAGAGAACTTATAGTCTAGTATAGTCTACAAAACCGGCAAGTTAAATAAACTTAAATACGCAAGTTTTGGGAGACTCTATTACTCAATTAAATTAAGGCAACGAGTTTGCTCAATTAATTTAGTTCAGTCAACTATTATACACTGAAAACCCTAATATTTCAGTGTATAAAAAGTTGTATACTGAAGTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44088
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113212 | Essential Splice Site | 154 | 217 | 5 | 8 |
| ENSDART00000114768 | Essential Splice Site | 725 | 984 | 12 | 18 |
| ENSDART00000145504 | Essential Splice Site | 520 | 779 | 9 | 15 |
Genomic Location (Zv9):
Chromosome 24 (position 7925383)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 7782675 |
| GRCz11 | 24 | 7811994 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTCCCTGAAAACAAGGATAAAAATCGATTCTCCAATGTTTTACCAT[G/T]TGAGTATTTACTTTATATACTAGAAACTTCAAGAAAAGTAAAGGTATGGA
Long Flanking Sequence:
CTTATGCTGAGCACTGTATATATAAAATGTAACAGAAATTCTATTATTTCTATTATTATATCCCTTATATCTTTTTCCCCTCATATTTCATCTTTAGTGGACCAGATGCATCTGCTGATTTAAAAGTGTCTAAAAAGAACTACAAGTATGTATGACTCACTTTCACTTTTTTTAAGTGTGCTACGTGTTGTTGTTTGGTGATTTAATAATAAAAACACTTGTGAAATGTTTCTTTCAGAACAATCGCCTGCGATAAATTTCCTGAACATTTCCGAAACATGAGTCGTGATGATAACAGAGCTTTCAGTGCTGAATATGATGTAAAGCTGACTCAATACAAAACAGTTTTATTTATCTTGAACAATTCAAGTGTTTATAAAGAATGATTTTCCTGAATATGTTTTAACAGGACTTGAGTTCAGTGGGTGTAGAACAGTCAAAGGTTGCGGCTCTTCTCCCTGAAAACAAGGATAAAAATCGATTCTCCAATGTTTTACCAT[G/T]TGAGTATTTACTTTATATACTAGAAACTTCAAGAAAAGTAAAGGTATGGATACTGTCATTTGGCGATGGTGCAATATGAAGCCATAAGCCTGAGCAATAGTGATCTCAAGGACTCAAAGTCCAAATTCCAGCAGACCCAAGCTCACAATCTTTACTCCTCACCCCATTTTTATAGCTTCAAACAAATAAATTACACTGTTGTAAAAAAATGTCACTGTTATAAAAAAAATGACTGAAAAGCTTTGGTTTTACTCTTTAATTAGGATTAAAGATCCCCTATTATGCATTAAAAAGGTCATATTTTTGTTTTGGGGGTCGCCAACAACAGTCTGATATGCATACAAGGTTAAAAAACACCTTCATTGTATTATAATACGCATTTATTTTTACCCAATTATCCCAACGACTCTTATATGAATACTTCAGGGATTCATTCCAAACCCTTCCTTAGCGCATTGCTAGTCTGCTCTGATTGGTCTAATGACCCAGTCTGTTGTGAT
Associated Phenotype:
Not determined