ZMP
si:dkey-225n3.4
Ensembl ID:
ZFIN IDs:
Human Orthologue:
PTCHD1
Human Description:
patched domain containing 1 [Source:HGNC Symbol;Acc:26392]
Mouse Orthologue:
Ptchd1
Mouse Description:
patched domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2685233]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa32488 | Nonsense | Available for shipment | Available now |
| sa17881 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32488
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000026599 | Nonsense | 465 | 890 | 3 | 3 |
| ENSDART00000137526 | None | None | 41 | None | 2 |
Genomic Location (Zv9):
Chromosome 24 (position 26305553)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 25208241 |
| GRCz11 | 24 | 25353192 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGCCCGAGCTGCTGCAGCAGAAGCCAGCATGGTACCGCTTTCTTATGTA[C/A]ACACATTACAACGAGGAGGCCACGGAAGCAGGACCCCTGTGTGCTTATGA
Long Flanking Sequence:
TTATGTCAGTTGAAAGAGTTGCCTGCCAAAATCATTCTAAGCTATGCTTAGACCAGTTCACATCACGTTTTTCGTTTAATCTTCATAAATCACTGAAAGACATATTTTCTCTCTTCATCTCTTGTAGGTCATGGCTTGTTTGGCACATTTGAGATGCTGTCGTCTTGGCGACGGACCCGCGAGGACCAGCATGTGAAGGAGCGAGTTGCTGCTGTGTTCTCTGACTGTATGCTGCCCTTCACAGCTAGCACAGCCCTGCATGTAGTCACCTTTGGCATCGGAGCCAGTCCATTCACAAACATTGAAGCTGTGCGACTCTTCTGTCAGAACGCCTGTATCTCAGTCCTCTTCAACTACCTCTACATCCTCACCTTCTATGGCTCCAACCTGGTGTTCGCTGGATACCTGGAAAACAACTATCGTCACAGTTTGTTCTGCAGGCGTGTACCGAAGCCCGAGCTGCTGCAGCAGAAGCCAGCATGGTACCGCTTTCTTATGTA[C/A]ACACATTACAACGAGGAGGCCACGGAAGCAGGACCCCTGTGTGCTTATGAAAGCCACCTACTGGTAGCCTTTATGAAGCGGTACTACTGTGACTGGATCACTAATACCTATGTCAAACCATTCGTGGTTCTTTTCTACTTAGTCTATGTTTCCTTTGCCCTCATGGGCTACCTTCAGGTCAGCGAAGGGTCAGATCTTAGTAATGTGGTTGCCACAGAAACAAGCACTATAGCTTATACTCGTGCCCAACAGCGGTATTTCAGTAGTTACAGTCCTGTGATCGGCTTCTACATCTATGAGTCGATTGAGTACTGGAACACCAGTGTGCAAGAGGACCTACTAGAGTACATTAAAGGTTTTGAACGCATTTCCTGGTTCGAGAGTTACCTTAACTATCTTCATGGGCTGAACATCACTACTAGCCTGTCCCGCAGCAACTTTACAGAGCGCCTGCGCTCTGGCTTTCTGCGTCAACCCCGATACGTGCATTTCACAGATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17881
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 |
|---|---|---|---|---|---|
| ENSDART00000026599 | Nonsense | 549 | 890 | 3 | 3 |
| ENSDART00000137526 | None | None | 41 | None | 2 |
Genomic Location (Zv9):
Chromosome 24 (position 26305803)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 25207991 |
| GRCz11 | 24 | 25352942 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTAATKTGGTTGCCACAGAAACAAGCACTAKAGCTTATACTCGTGCCCAA[C/T]AGCGGTATTTCAGTAGTTACAGTCCTGTGATCGGCTTCTACATCTATGAG
Long Flanking Sequence:
CAGCCCTGCATGTAGTCACCTTTGGCATCGGAGCCAGTCCATTCACAAACATTGAAGCTGTGCGACTCTTCTGTCAGAACGCCTGTATCTCAGTCCTCTTCAACTACCTCTACATCCTCACCTTCTATGGCTCCAACCTGGTGTTCGCTGGATACCTGGAAAACAACTATCGTCACAGTTTGTTCTGCAGGCGTGTACCGAAGCCCGAGCTGCTGCAGCAGAAGCCAGCATGGTACCGCTTTCTTATGTACACACATTACAACGAGGAGGCCACGGAAGCAGGACCCCTGTGTGCTTATGAAAGCCACCTACTGGTAGCCTTTATGAAGCGGTACTACTGTGACTGGATCACTAATACCTATGTCAAACCATTCGTGGTTCTTTTCTACTTAGTCTATGTTTCCTTTGCCCTCATGGGCTACCTTCAGGTCAGCGAAGGGTCAGATCTTAGTAATGTGGTTGCCACAGAAACAAGCACTATAGCTTATACTCGTGCCCAA[C/T]AGCGGTATTTCAGTAGTTACAGTCCTGTGATCGGCTTCTACATCTATGAGTCGATTGAGTACTGGAACACCAGTGTGCAAGAGGACCTACTAGAGTACATTAAAGGTTTTGAACGCATTTCCTGGTTCGAGAGTTACCTTAACTATCTTCATGGGCTGAACATCACTACTAGCCTGTCCCGCAGCAACTTTACAGAGCGCCTGCGCTCTGGCTTTCTGCGTCAACCCCGATACGTGCATTTCACAGATGATATCATCTTTGCCAAACGATCAGATGGGGAATTTGACGTGGTGGCCTCACGTATGTTTCTCATTGCTAAAACAACTGAAAACAAACGAGAGGAGATGTCTATCCTACTGGACACACTGAGGAAACTGTCATTGACCTCCAGGGTAAAATTCATCATCTTCAATCCATCCTTTGTGTATATGGACCGATATGCCTCATCAGTTGGAGCACCGCTGAAGAACTCTTGCATCGCTGCTCTCTTTCTGCTTTTC
Associated Phenotype:
Not determined