ZMP
ptch1
Ensembl ID:
ZFIN ID:
Description:
Patched 2 [Source:UniProtKB/TrEMBL;Acc:B0UXP5]
Human Orthologue:
PTCH1
Human Description:
patched 1 [Source:HGNC Symbol;Acc:9585]
Mouse Orthologue:
Ptch1
Mouse Description:
patched homolog 1 Gene [Source:MGI Symbol;Acc:MGI:105373]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17883 | Nonsense | Available for shipment | Available now |
| sa21322 | Essential Splice Site | Available for shipment | Available now |
| sa9464 | Nonsense | Available for shipment | Available now |
| sa21323 | Nonsense | Available for shipment | Available now |
| sa784 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17883
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 |
|---|---|---|---|---|---|
| ENSDART00000007640 | Nonsense | 602 | 1242 | 13 | 23 |
| ENSDART00000121923 | Nonsense | 602 | 1475 | 13 | 24 |
| ENSDART00000148258 | Nonsense | 482 | 1355 | 11 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 30864999)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 30007725 |
| GRCz11 | 8 | 30016957 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCATGGACCTGTATCGCAGAGAGGACCGCCGCTTTGACATYTTCTGCTG[C/A]TTTGTCAGGTAATTCACATATTCAACTGGCTAAAKAAAGGCYCGATATAA
Long Flanking Sequence:
TTCACTGAGCGCTTGAGTTACTTAACCATTATATCGCATGAGAAACAAGTAATTGAAATGTCAAATTTCAAATAAAAATACTTTCATTTGCAAAAAAAAAAAAAAAACTTTTTGCACTCACTTGAAGTGGCTCTGTTCTTGGACAAAATGGGGTTAATGCGAAAAATTGGAAATGGAAATGCATTTCTATTAGGCTCACCTTGTTTACTGTTGGTTACTAGGCTACCAATACTACAGTCAGCTGCTCTGACAGCTTGATGCAAATGCACCTAATAGGCTTTTGGGATTTTTTCTTATTAGATAAAAATGACTTCACATTAAGATGGAAACCTGGCTACTTTTTGTGATTATTGAAGAGTATATGTGCTTATTTTTTTCTTTTTCTTTCAGGCGGCAGTGGTGGTGGTGTTTAACTTTGCCATGGTGCTACTCATCTTTCCTGCCATCCTCAGCATGGACCTGTATCGCAGAGAGGACCGCCGCTTTGACATCTTCTGCTG[C/A]TTTGTCAGGTAATTCACATATTCAACTGGCTAAATAAAGGCTCGATATAAACTTCTATTGTTTTGGTAACACTTTATTTTGATGGTCCATTAGTGTATTAGTAGACTGTCTGCTTAATATCCATTCATACTGCTCTATCAACAGACGTTTAATTGACTAAAAGAAACTTTGCAAATAAATGTGACCTTACACTAAGCCTAATGCCAACCTAATCTACTTATAATCTAATGAAAATTAGTTAGCATGTAACTTAAATTCAACAAACAGACCATCAAAATAAAGTGTGACCTTGTTTTTAAACTAAGCAAAGCATGGGCTAATGTGTCTAGTTGGTTGTTGTTACAGAACAAACTCAATTGGGATCTTGTGTCACCCTGTTTTTTTCACGATAACAGTCGATTGGATGCACGCAATAGCAGTTATTTAAACAGCTACTTCCTTCATAAGTAGATTATTTTATTCCAAATATTGAATTGATTAAAAATATTTTATTTGCTTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21322
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000007640 | Essential Splice Site | 769 | 1242 | 14 | 23 |
| ENSDART00000121923 | Essential Splice Site | 769 | 1475 | 14 | 24 |
| ENSDART00000148258 | Essential Splice Site | 649 | 1355 | 12 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 30869913)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 30012639 |
| GRCz11 | 8 | 30021871 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTGCTGAAAAGCACTACGCACCATTTCTGCTTCAGTCTACAACGAAGG[T/A]AAGGCTAAAATGCTTTTTTTGCAATTGTGTTATATTTTGGAGGCCAGCAA
Long Flanking Sequence:
CTTTAGCCCTTGCGCTAACCGAGTGATCCAGTTGGAGCCACAGGCAGCGTATGCCGATTCCTCAGCGGACTCGAGTCGCTACAGCCCTCCACCCTCCTACAGCAGCCACAGTTTCGCCCAGCACACCCAAATCACCATGCAGTCCACCGTACAGCTGCGCACCGAATATGACCCCAGAACACAGGCCTACTACACCACGGCTGAGCCCCATTCCCACATCTCTGTCCAACCCTACGCCCCCAATACAAATCCTAACCCCAACCCCAACCGCAACAACAATAACAACAACTGCACCAACAACAGCAGCAGTGCAGTGCCAGGAGTAGCCACTGATACAGCATCCTGCCAGAGTCCAGATGGCGCCAGCTCCACACGAGACCTGCTATCTCAGTTTGGGGATTCGGGTATACGTTGTCTGGATTCTCCGTATTCAAGATGGACTTTCGCATCATTTGCTGAAAAGCACTACGCACCATTTCTGCTTCAGTCTACAACGAAGG[T/A]AAGGCTAAAATGCTTTTTTTGCAATTGTGTTATATTTTGGAGGCCAGCAATGAGCTAATCTCTTGGCGTTTAATGAGCTTATCTTGTTGAGTTGTGTAAGTGTTATTTTGTGAGTCAAGGCCTTCTGAAAACCACAAACACCTCAGAAGTTTGTCATGAAATATTAAACAGCAGCAGCTTCAGATGTGGCCAAGGCCTGACTCATACCTTTGTTTTTGTGTGTGTGTTTCCTATCAGGTGGTGGTGATTTTCCTGTTCCTGGCACTCCTCGGGGTCAGTCTGTACGGCACCACCCGCGTTCGGGATGGGTTAGAGTTGACTGACATTGTGCCACGGGAGACGGGTGAATATGACTTCATACGTGCCCAGTTCCGTTATTTTTCATTCTACAACATGTACGTGGTGACCCAGAGGGCGGACTACGCACAGATCCAGCCTCAGCTCTATGAGCTGCACCAGCGCTTTGGCTCTGTGAAGTACATCCTGCGGGAAGAGAACGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9464
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 |
|---|---|---|---|---|---|
| ENSDART00000007640 | Nonsense | 823 | 1242 | 15 | 23 |
| ENSDART00000121923 | Nonsense | 823 | 1475 | 15 | 24 |
| ENSDART00000148258 | Nonsense | 703 | 1355 | 13 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 30870312)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 30013038 |
| GRCz11 | 8 | 30022270 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATGACTTCATACGTGCCCAGTTCCGTTATTTTTCATTCTACAACATGTA[C/A]GTGGTGACCCAGAGGGCGGACTACGCACAGATCCAGCCTCAGCTCTATGA
Long Flanking Sequence:
TTCGGGTATACGTTGTCTGGATTCTCCGTATTCAAGATGGACTTTCGCATCATTTGCTGAAAAGCACTACGCACCATTTCTGCTTCAGTCTACAACGAAGGTAAGGCTAAAATGCTTTTTTTGCAATTGTGTTATATTTTGGAGGCCAGCAATGAGCTAATCTCTTGGCGTTTAATGAGCTTATCTTGTTGAGTTGTGTAAGTGTTATTTTGTGAGTCAAGGCCTTCTGAAAACCACAAACACCTCAGAAGTTTGTCATGAAATATTAAACAGCAGCAGCTTCAGATGTGGCCAAGGCCTGACTCATACCTTTGTTTTTGTGTGTGTGTTTCCTATCAGGTGGTGGTGATTTTCCTGTTCCTGGCACTCCTCGGGGTCAGTCTGTACGGCACCACCCGCGTTCGGGATGGGTTAGAGTTGACTGACATTGTGCCACGGGAGACGGGTGAATATGACTTCATACGTGCCCAGTTCCGTTATTTTTCATTCTACAACATGTA[C/A]GTGGTGACCCAGAGGGCGGACTACGCACAGATCCAGCCTCAGCTCTATGAGCTGCACCAGCGCTTTGGCTCTGTGAAGTACATCCTGCGGGAAGAGAACGGCCAACTCCCGCGCATGTGGCTGCATTACTTCAGAGACTGGCTGCTAGGTAATACATCCTAATAAATACTAACCCCTAAACCCTAACCCTAAGGTGGAGCAAGCTTATAATTGTAATGTGAAGTGACACTAACAACAGTGAGTAAGGATCCAAATGCAGGTTTAATTATGCAGAGAATGGTCAGGCAAGTAGCAGTCAACATAGGAGCAAACAGATGTATACAGGCAATCCAGAATCATAGTCAATAAGCAGGCAGGTGTTCAAAGGCAGGCAGTAGACATTAATAAGTAAACAAAATAAACTTTTTTACACAGCGCATGTCCTTCCAGCCACAACCCATCTCTGGGAAACATCCACACACACTCATTCACACACACATTCCTACACTATGGACAATTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21323
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 |
|---|---|---|---|---|---|
| ENSDART00000007640 | Nonsense | 1035 | 1242 | 18 | 23 |
| ENSDART00000121923 | Nonsense | 1035 | 1475 | 18 | 24 |
| ENSDART00000148258 | Nonsense | 915 | 1355 | 16 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 30895585)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 30038311 |
| GRCz11 | 8 | 30047543 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCTTCCCAGCTACCCCAACGGCTACCCCTTCCTCTTCTGGGAGCAGTA[T/A]GTAGGCCTACGCCACTGGCTCCTGCTTTCCATCAGCGTTGTGCTGGCCTG
Long Flanking Sequence:
AACACAGCACCCCCTCTGTTCAAAAAATGTATTGCGATTCGTTTAACATTTCTACGCTTTGAATCGTCACATATTTGAATAGATTTTCACCAACTCACGGTGAATCGTTACATTTCTACAAAGCAGGTGTCCATACATTTTTAAAATTGAGGAAAAAATTCCCTGTGTGTACTTTACTGAGGATGAAATACGTCACATCAACAGCATGCAAACATGTAAAAACCAAACTATATATTGGGTTTAATAGTGAAAGACAAAGTGGCTTTTTGTCTTTAAAAGTGAAACTGACTTTTTGATAATTTTTCATTTGTATTTATATCTGCAGTTCCTGCCGCTGAGCCCATCGAATATGCACAGTTTCCCTTCTACCTCAACGGGCTTCGCGAGACGCCACAGTTCGTGGAGGCCATCGAGAGCGTTCGCGCCATCTGCAACAACTTCAGTCGCCAAGGTCTTCCCAGCTACCCCAACGGCTACCCCTTCCTCTTCTGGGAGCAGTA[T/A]GTAGGCCTACGCCACTGGCTCCTGCTTTCCATCAGCGTTGTGCTGGCCTGCACCTTTTTGGTGTGCGCAGTCTTCCTGCTCAACCCCTGGACTGCCGGAATCATAGTGAGTTTCTTCTTTACATTTGTTTTGGCTTTGTTTACATGCACATCCATCCATCACTAACTTGGCTCTGTGTAGTGTGTACATACATTTAAAGTACAAATGTAATCAAAACTAACCCTATGATTTTATTATCTCAGATTACCAGTTTTGAACAATTCACCTGTGCATGTCTTTAGGAAAAAATTAAATCATTTGCCCCTGTTTTCTTAAAAATTTGTTATATCTGAAAATGCACTTCCTGTTTGTTTTCAGTTAAATTCTCAAATTACGTCTGTCTAATGTATTAATATACTTAACCACGCCCCTGCTACTATCAGTTTCTAGAAAACAAACAGAAATAGTGCGGATGAGTTGTAATAACTCTCCCGAAACACTTTTCTCAATCTTTCTGAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa784
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 |
|---|---|---|---|---|---|
| ENSDART00000007640 | Nonsense | 1217 | 1242 | 22 | 23 |
| ENSDART00000121923 | Nonsense | 1217 | 1475 | 22 | 24 |
| ENSDART00000148258 | Nonsense | 1097 | 1355 | 20 | 21 |
Genomic Location (Zv9):
Chromosome 8 (position 30911339)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 30054065 |
| GRCz11 | 8 | 30063297 |
KASP Assay ID:
554-0689.1 (used for ordering genotyping assays)
KASP Sequence:
CAGCGGATGGGCRAAGCCGGCTGCCCACCCCGTCTCCAGAGCCTCCRCCA[C/T]AGGTGGTCCGCTTCACCATGCGYCCAAGTCACAYGACCCCTGGAGCTGGT
Long Flanking Sequence:
TGTTTTATATGCTTTTGCCAGTTTTAGAGATTAAGGTTAACTCTGCGTCAACTCATTTAAAAGTGCTGTATGTCAGTTTTTGACTCTTCTAAAACTTAAAAAATACCATAATATGTTTGCAGATATTTAAGAAACATGCCAACTAAACAGCTTCAAAAATTTGTTTCAAACCGGAAGTACGAATTTGCTCTAATTAACGCAAAAACAACCAATTTTCACTTTTTAGTGAAATATATGTCCTAATAATGTTTTTAGCAGTGTGGGATACATATATGACAGCTCAAAAAATGTGTTTTGGTGTTTTGTAACCCTTTAACTACACTTTACACTGTTAATTATATTTCAGAGTTACTGCCTTTTTTCTCCTTAGACCACTTTCAGTCATTTTATAATGTCCTCTCTCAAAAAAGGAAATATTGATGTTTGTGTCGTAATCACTTCAGGTATCTCCAGCGGATGGGCAAAGCCGGCTGCCCACCCCGTCTCCAGAGCCTCCGCCA[C/T]AGGTGGTCCGCTTCACCATGCGTCCAAGTCACACGACCCCTGGAGCTGGTTCAGACTCCTCAGACTCAGAATACGGCTCTAACACAACTGTGTCCGGAATAAGCCAGGAGCTTCAGCAGTACAACCTCCAGCCCAACAGGGGGCGATCAGCCAGACTGGAGGAGGTGCGGATCGCCACAGCAGGACGACAAGGCAGCCGTCAAGTTGAACTGCCAATGTTTCCTTCTTGCTCAGTGAGTTGAGCTTTTATCCACCTTTTTACACACATTCAAAACATGGGTTGCTCATTTTCAAAACATGATCTAATTTTCAATTTAATATACTGTCATTAACCACACAAGAAATATTTTCCTTCACCTTTAAAAGTATTATCTGCACAGGAAAATAACATATCAATTATCATCATTCACTTGTTCATGAAACGTCAATGCAATGAAAATTCATGATTCAAAATATTATAGCTAAACAACAAACCATTAAAGAAACACCAAAAGGATCCA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |