ZMP
si:ch211-250m6.7
Ensembl ID:
ZFIN ID:
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:Q5RJ13]
Human Orthologue:
PTCHD3
Human Description:
patched domain containing 3 [Source:HGNC Symbol;Acc:24776]
Mouse Orthologue:
Ptchd3
Mouse Description:
patched domain containing 3 Gene [Source:MGI Symbol;Acc:MGI:1921925]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20320 | Essential Splice Site | Available for shipment | Available now |
| sa17796 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20320
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099761 | Essential Splice Site | 274 | 826 | 2 | 4 |
Genomic Location (Zv9):
Chromosome 4 (position 61361496)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 76258410 |
| GRCz11 | 4 | 77623127 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCATCACATACGCCCTGGCCATCAACATTGCAGTTCTTTCTTGTTTGAG[G/C]TACGCAGTATTCAAATAATACTAATCTAAGTACCTAATCTAAGAGTGTGA
Long Flanking Sequence:
GGAACAACCATCGGTGGTGTAGAGACACAGCCAAACAGCTCAATGCTGAAAAGTGCCAAAGCGATCAGACTTTATTACTTCCTAGATGAGAAGAAGAGCAAGGGAAACGCAGACTGGCTTGAAGGCTTTATAGAGTTCTTCTCTAATTACACAGACCAGGAAAAGGTGAGTGAAGATGATCGAGAGGTCCTTCAGCATGGCCTAACACACACACAAACAATCTCCAATCACTGTAACCCATTCCTTAAAGACATCTGAAGAAAACACAGATACATTTGCTCGATGTTTCTCTGCTGGTGTCGTGACCTGTGCTAATCTGCCATGATCATGTCTTCACTGCAGCTCATTAATGTGTGTGTTGGATCTCCACAGGTCAGTGTGTCTTACTTCACGTCAGTGTCAAGACAGAATGAGTTTGAGGGCAATACAGACTCCGTGATCCCTCTGTTCTCCATCACATACGCCCTGGCCATCAACATTGCAGTTCTTTCTTGTTTGAG[G/C]TACGCAGTATTCAAATAATACTAATCTAAGTACCTAATCTAAGAGTGTGAGACAGGCTCAATTAGACAGGTGTGTATCCACAGGTTAGACTGTGTCCGGACGAAGGTGTGGGTGGCGTTACTCGGCGTGGTGTCTGCTGGTATGGCCGTGTTGGCGAGCTTCGGTCTGCTGTTGTTCTGTGGGATGCCGTTCGCCATGACCGTGGGCTCGGCACCCTTTCTGATTCTGGGTAAACTTAATTAATGTCATCATCTCCCGGTGCGTCTCTCAGCTGGTGTTCACTAGCTCTGCTTTCCTCCAGGTGTCGGCGTTGACGACATGTTCATAATGATCTCCAGCTGGCAAAAGACTTCGGTTGATATAGGCGTGGAGTTCCGCTTAGCAGAAGCGTATAAAGAGGCTGGCGTGTCCATCACCATCACCACGCTGACGGATGTGCTGGCCTTCTACATCGGGCTGCTGACGCCCTTCCGCTCGGTGCAGTCGTTCTGCATGTACAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17796
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099761 | Nonsense | 463 | 826 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 4 (position 61360773)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 76259133 |
| GRCz11 | 4 | 77622404 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAAACAAGGAGCATGAAATGCCAATGGAAGTRTTCTTYAAGAAATATTA[T/A]GGCCCATTTCTGGCAAAGGTRYGGGTCAAGGTGCTYGTGTGTCTGATCTA
Long Flanking Sequence:
ATTCTGGGTAAACTTAATTAATGTCATCATCTCCCGGTGCGTCTCTCAGCTGGTGTTCACTAGCTCTGCTTTCCTCCAGGTGTCGGCGTTGACGACATGTTCATAATGATCTCCAGCTGGCAAAAGACTTCGGTTGATATAGGCGTGGAGTTCCGCTTAGCAGAAGCGTATAAAGAGGCTGGCGTGTCCATCACCATCACCACGCTGACGGATGTGCTGGCCTTCTACATCGGGCTGCTGACGCCCTTCCGCTCGGTGCAGTCGTTCTGCATGTACACCAGCACCGCTCTGCTCTTCTGCTACCTCTTCAACATCACCTTCTTCGGCGCGTGTCTCGCCCTGAACGGACGGAGAGAGAAAAGCAACAGACACTTTCTGACATGCATGACGGTCCCAAAACCCAGTGGCGATGCTGTAAGTTGTTGTGCTGGTGGGGCTTTTGATGAAAACACAAACAAGGAGCATGAAATGCCAATGGAAGTGTTCTTTAAGAAATATTA[T/A]GGCCCATTTCTGGCAAAGGTGTGGGTCAAGGTGCTCGTGTGTCTGATCTACGCCGGATATTTAGCTGTCAGTATCTACGGATGCTTCCAAATGGAGGAAGGTCTAGACCTGAAGCATTTAGCAACAGACGGCTCGTATGTTGCAGATTACTATGACAGAGAGGATGAGTTCTTCTCTGCGTTTGGTCCGAATGTCATGTTAGTCATCAAAGATGAACATTTTCAGTACTGGAGCCCTGATGCTCGTAAAAGTCTTGACTTGTGTTTGAAAAACTTTGGAGATCTAACAATGGTAGATTCAGAGATTCCACTTACTTCTTGGCTTGATGCATACATGCAGTTTGGTCAGAGTGCTGGTTTTGATTTAAACAATGAAATGATATTCAAAACTCAATTACCCGCATTTCTTAACCGCTCAGAGTTTAGCCACGATGTTCATTTCACCGATAATAATATCAATGCAACACGCATGTTCATTCAAACGGTGAACATCAAGACAGC
Associated Phenotype:
Not determined