ZMP
si:dkey-32e23.6
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate patched domain containing 2 (Ptchd2) [Source:UniProtKB/TrEMBL;Ac
Human Orthologue:
PTCHD2
Human Description:
patched domain containing 2 [Source:HGNC Symbol;Acc:29251]
Mouse Orthologue:
Ptchd2
Mouse Description:
patched domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2444403]
Alleles
There are 9 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa41303 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa30908 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa16571 | Splice Site, Nonsense | Available for shipment | Available now |
| sa9894 | Essential Splice Site | Available for shipment | Available now |
| sa34506 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa21392 | Essential Splice Site | Available for shipment | Available now |
| sa27283 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa34507 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41303
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | Nonsense | 306 | 1326 | 1 | 22 |
| ENSDART00000127709 | Nonsense | 276 | 1300 | 2 | 24 |
| ENSDART00000131312 | Nonsense | 245 | 518 | 1 | 6 |
| ENSDART00000053768 | Nonsense | 306 | 1326 | 1 | 22 |
| ENSDART00000127709 | Nonsense | 276 | 1300 | 2 | 24 |
| ENSDART00000131312 | Nonsense | 245 | 518 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53354363)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51096888 |
| GRCz11 | 8 | 51085910 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCGTCCTGTCCTACCTCTTTCCCAGTGAGCGAGCAGGGAAGATCTACTA[T/A]GATGGAATGGGGCCTGATCTTGCTGATATACATGGTGAGTTGCGAGGTGG
Long Flanking Sequence:
AGGAAAGGAAAGGACGTCTCTGGCATAGCGAATGTCACGGAACCTACAGGGATTTTGGGAAAAGCTGAGGCGGGAGCATACAATGACAACAGGCAGTTTGGAAATGAGAAAAACAAGGAGATGAAAGAGAGGGAAAAAGACTCGAGCATATCCGCAACCCTCAATTCCAGTGATGCCGAAGATCACAAGAAACCAGACTCGCCCTTAATGAGAACCCGTAGGTTTGCGGGCTACCCCTATCTCCAGACCCAAGCCCTTTGGAGGATCGAGCTAGTGTTTGTGGCCCAGGGTGACAAGGATAACAACATCTTCACCCCCGACCGTCTTCACACCATACACCATGTGGAGAGAGTACTAATGCAGCACCCTCAGTTTCAGCAGTTCTGCTGGAAGCCATTGGAGGCGTTGCAGGATTTGCCTCTGGGACCCTCCTTCTGCTCCCCTCCGAGCTCCGTCCTGTCCTACCTCTTTCCCAGTGAGCGAGCAGGGAAGATCTACTA[T/A]GATGGAATGGGGCCTGATCTTGCTGATATACATGGTGAGTTGCGAGGTGGGGGCTGTTTATCCCACTGTCTTTGTTGTCAATAAGCTGAGCTAAACTCTCTTTACCCTTGTGTGCTGTTGAGAATGTTTTCATCCACTCTGGGGTAGGGCTGGGCGATTTATATGATTTTTTCGATTAATTCGAATTTACGTTTTGACGACGATTTAATTTTATGTTATATGTTATGTTATGTTAAATTGTGACTTTTAAAAAAATATATATATATTTAATACATAATAATGGATTAAATATCGGCGATGTACCACGCAGCACCACGCAGCACCAAGGATTTTAGAATTCTAAACAGGTTCTATACACACACCGGCGCCGCCCAGCCACGATTCAGGACGCAATTCATATTTCAGCCGCGCCACAGATCGCCATCTGATTAGTTTCATGTTAAATATCATGCGAACGTGCGCGTTTGGTGTGTGATAGTTTAAACTGTCATGTGCGCGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30908
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | Nonsense | 306 | 1326 | 1 | 22 |
| ENSDART00000127709 | Nonsense | 276 | 1300 | 2 | 24 |
| ENSDART00000131312 | Nonsense | 245 | 518 | 1 | 6 |
| ENSDART00000053768 | Nonsense | 306 | 1326 | 1 | 22 |
| ENSDART00000127709 | Nonsense | 276 | 1300 | 2 | 24 |
| ENSDART00000131312 | Nonsense | 245 | 518 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53354363)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51096888 |
| GRCz11 | 8 | 51085910 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCGTCCTGTCCTACCTCTTTCCCAGTGAGCGAGCAGGGAAGATCTACTA[T/A]GATGGAATGGGGCCTGATCTTGCTGATATACATGGTGAGTTGCGAGGTGG
Long Flanking Sequence:
AGGAAAGGAAAGGACGTCTCTGGCATAGCGAATGTCACGGAACCTACAGGGATTTTGGGAAAAGCTGAGGCGGGAGCATACAATGACAACAGGCAGTTTGGAAATGAGAAAAACAAGGAGATGAAAGAGAGGGAAAAAGACTCGAGCATATCCGCAACCCTCAATTCCAGTGATGCCGAAGATCACAAGAAACCAGACTCGCCCTTAATGAGAACCCGTAGGTTTGCGGGCTACCCCTATCTCCAGACCCAAGCCCTTTGGAGGATCGAGCTAGTGTTTGTGGCCCAGGGTGACAAGGATAACAACATCTTCACCCCCGACCGTCTTCACACCATACACCATGTGGAGAGAGTACTAATGCAGCACCCTCAGTTTCAGCAGTTCTGCTGGAAGCCATTGGAGGCGTTGCAGGATTTGCCTCTGGGACCCTCCTTCTGCTCCCCTCCGAGCTCCGTCCTGTCCTACCTCTTTCCCAGTGAGCGAGCAGGGAAGATCTACTA[T/A]GATGGAATGGGGCCTGATCTTGCTGATATACATGGTGAGTTGCGAGGTGGGGGCTGTTTATCCCACTGTCTTTGTTGTCAATAAGCTGAGCTAAACTCTCTTTACCCTTGTGTGCTGTTGAGAATGTTTTCATCCACTCTGGGGTAGGGCTGGGCGATTTATATGATTTTTTCGATTAATTCGAATTTACGTTTTGACGACGATTTAATTTTATGTTATATGTTATGTTATGTTAAATTGTGACTTTTAAAAAAATATATATATATTTAATACATAATAATGGATTAAATATCGGCGATGTACCACGCAGCACCACGCAGCACCAAGGATTTTAGAATTCTAAACAGGTTCTATACACACACCGGCGCCGCCCAGCCACGATTCAGGACGCAATTCATATTTCAGCCGCGCCACAGATCGCCATCTGATTAGTTTCATGTTAAATATCATGCGAACGTGCGCGTTTGGTGTGTGATAGTTTAAACTGTCATGTGCGCGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16571
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:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | None | None | 1326 | None | 22 |
| ENSDART00000127709 | Splice Site, Nonsense | 592 | 1300 | 9 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53370074)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51112599 |
| GRCz11 | 8 | 51101621 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAAGGTAGGGGAGAGTGGAGATGGYTGCAACAAGACTTAWTCCTCTATT[T/A]AGGCATGAGCTAGAGTSMTGATATTTTTACTACATATTCTCAGTTAGACC
Long Flanking Sequence:
TACTCGAAAACAGCAGGCACAAATGGCACTGGCGAAAAATTTGAGATTTGAAAAAGCGTACACAGCGGCCTCTGGTGGATTTGCGAAAACAAAAACTGCAAAAAATGTAGCTCCTGGGAAGTATTTGATGCTCTCCAGAATTGTATACAGGGGTACGTTTTCAGAATGAGCCTGGGCTGAGTTTTTAAAACTGATAAAATCCTACTAGGTTTGACATCACTCTGGTTTGTTTAATGCACTGTTATTCCTGCTTCTTTAGGCACCACTTGCTGGATTAGCATTTTGATCTGTATATGAATAATGTTTTAGTTTAGGATTCAGTAGATTAGATTAATTTCTTTCAATCACCATTAATTAGTAAATATGCTGTAAGTTAAAATGTCGCCAATGTTACTGGTTGAAACCATAAAGTGGCGATGAGGTCTTAAAATGTATGGAAAGAGTCTTTTAAAAAGGTAGGGGAGAGTGGAGATGGTTGCAACAAGACTTATTCCTCTATT[T/A]AGGCATGAGCTAGAGTGATGATATTTTTACTACATATTCTCAGTTAGACCCTCCTTCAGTACGGAAGACATGATGTGACCATTCCTTTTGTATAAAACTTATTTTGAGGTAAAAAAAAAAATGTATTTACTAATGGTCAGAACATTTCTCATACTGTCTAATTTGTTTTTGTAAGACATTACTTGATTAATTAATTAATTTTAAAGTTGGATGTTGCTTCTTTTAATAGTCTGTATTTATATGGCCAATTTAACTAATGTAACATTTTAACCATGTAACATTTAGTGTGTTAACCAAAAAAATATTCAATTTAATGTTTTAGAATTTTTTTATTATTATTTCATTTCAATGAATGTTGCAGCCGTCCCCATGCTCGGGGTCAGTTGCAATATTCGACTTTGTGTGTTGAAGTTTAAATTCTGCATATGTTATTATTTGTACACGTCATAGCAATATGGGTGGGTATCTAATAGATGTGGGTTTATTAGGTTCAAATTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9894
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | Essential Splice Site | 631 | 1326 | 7 | 22 |
| ENSDART00000127709 | Essential Splice Site | 606 | 1300 | 10 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53371516)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51114041 |
| GRCz11 | 8 | 51103063 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCTCAGATGATGATGAYGTGGCTCTGATAACKGTCGAAATGGAACCAG[G/A]TACACTGTATAAAACATTGCACAACAAATTRTGCAGGAGTGTTTTTATAN
Long Flanking Sequence:
TAGACTAGAGAAGAGGCTAATAATTTTGTCCTTAAAATGATTTAAAAAAAATAAAACAGTTTTTATTCTAACCAAAATAAAGCAAATAAGCCTTTCTCCAGAAGAAAAAAATATTATCAGACATACTGTAAAAAAAATTCCCTGCTCTGTTAAACATCATTTGAGAAATATTTAAAAAAAAAAAAAAAGAAAAAGAAAATCAAAGGGAGGCGAATCATTTTAGACTTCAACTGATGGTGTTTAAATAATCAGTGACAAAAATGTAGTTGAAACCCAGCATTACACTTACAAAAATAACGACAAAATAGCTTGGAGACACTTTAGATTCAGATTCCTGAGACTGGAATAATGACAGAACTGGTAGTTTTGGGTGGATTATCCTATTAACGCTGATATTCTTGACCCTTGCAGGTGGACCACTTTAACGAAACTGTCCAGCAGCCCAGGTCCACTCTCAGATGATGATGACGTGGCTCTGATAACTGTCGAAATGGAACCAG[G/A]TACACTGTATAAAACATTGCACAACAAATTATGCAGGAGTGTTTTTATAAGGGTGACACGGTGGCTCAGTGGTTAGCGCTGTCACCTTACAGCAAGAAGGTCGCTGATTTGAGCCAGATGGCATTTCTGTGTGGAGTTCTCCCCATGTAGGTGTGGGTTCCCTTTGGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCACTATAGTGAAATTGAATGAACAAAATTGGTCGCAGTGTACGTGTGTGTTTGAATGTGAGAGTGTATGGGTGTTTTCCAGTACTGGGTTGCGGCTGGAAGAGCATCCGCTGTTGGTGGTTCATTTCACTGTGGCGACCACTGATAAATAAGAGACTAAGCTGAAGGAAAATAGATTAATGTATTTACAAGAAAATACTGTTTCAGAACGCATGCCGGATGTCATGTTTAATTCACTATGTGCATTTCTTTGGTAATATTCGTGAAATTAACTAGCAATTTTGCAGAAAAGCAATGTACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34506
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | Essential Splice Site | 830 | 1326 | 11 | 22 |
| ENSDART00000127709 | Essential Splice Site | 805 | 1300 | 14 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53390410)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51132834 |
| GRCz11 | 8 | 51121856 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCCTGGCAGGCTTCATCGGCTGCACACGGAGACGTGCCATCCTTTCAG[G/A]TCTGTGCTAACACACTCATTTACACACATTCATTAACACACGTGACACAT
Long Flanking Sequence:
TATTTTTGTAAATATTTATGTAAATATTTTAGTTAAACAGAAATTGTGAACACAATATGCAGGGGGGCTAATAATCCAGGATATATAAGTATTTTACTTGATATTATTATTTATTTTTATTTTATTTTAATATTATTTATATTCTGTTAAAGAGCCTAAATGTATATGACGGGTTGTGTTTTTTGTCTAAAAATAAATAAATAAATAAAAGCTATTTGTAGCCTACTGCCTGTTTCACATCTAAGATGTTCAATAAAAAGTAGGTCAAACCAAATCTTCCAGACTCCAAACTTTGCAGCAGTAGTATATCTGCGGTGCTGAATTGACCCTGATGAGTTCAGCGCTGTGATTGTGATTCTGCAGGTGGGCTGCTGACTGTCTATGTGTTCAAACTGGAGATGGGCTCCGCCGTTCCTCTTTATCGGTATTCACTAAGTGCCAGTGTACCTGCACCCTGGCAGGCTTCATCGGCTGCACACGGAGACGTGCCATCCTTTCAG[G/A]TCTGTGCTAACACACTCATTTACACACATTCATTAACACACGTGACACATCCTGAATTTAATTATATTCCTGAATATGATTTTATTTGATATGTGGAAAAAGGGATGCAGGATGGTAGCTTAGATTCAAAGGACAGTATGCTATTTATCACCACTAGAGGGTGTATATTCACAATGAACAAAAGAGTAGGTTGAAAGACTGAAAATGAGTGCGCTGAAGCAATTGTTGATGGCAGACATGCGCAGCACAAAACAAAAGTAGTGAATATATATATTTTACTTTATATATATAACATATATATAAATATATAACATGGTTCCACTGGTTTTTGGATATGTTAATGAAAAAATCGTACATATTGTGCATTTAATAAAGTAGAATTAAATTCATTATGAACGACAAACGTCATAGCAGTGTTACTTACAGTAGATCAGTGGTTTTCGCGGATGAATCACTGAGTAATGAAAGAAAAAATGAATAAGATTTTACTCACTTGATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21392
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | Essential Splice Site | 887 | 1326 | 12 | 22 |
| ENSDART00000127709 | Essential Splice Site | 862 | 1300 | 15 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53395421)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51137815 |
| GRCz11 | 8 | 51126837 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGCAGAGTTCGAGTTTTACGTGGCTTCGGTGGAGCAGCAGCGCAGCAG[G/A]CGAGTTTGTGTGTGTGTGTGTGTGTGCTGAAGACTGATGAGCCGTGACTG
Long Flanking Sequence:
AAGAAACAATAGTTTAAACCAAACAAACAGCTGCGATGAGCCGTTTCCTGCCTACATAATTACGCTTGGCAAATGTGTTTTTCACATTGCTTAATATTATCACTACACAGACAAAAACCATTACCGCCTGTGTGCTAATGCATCCTAGAAAAAAAAAGAAGCTTTCAATGTACACAATCTATCGCAAAGCTGTGGAATTCCATCATCCTGAGTGTAATGTGTCTGTGTGTGGCGTCTACTCATATCACCTCAGCACGCTTCAGTTGCCCTTATAGCCCCATTCTATCTGAGCTGACAAAAAAGCTGATCGATGTGTTGTCACGGTAACAGGCCTACAGCAGTCCCCATAGCAACTTCAGCACGCGGATAAGCGTGTGTGTGTCTCACGCCTATCACCCGCGGCCCCGCTGGATGCTGACGCTGCGCTCGTGTGACGGCAGCCGACGCTGGATTGCAGAGTTCGAGTTTTACGTGGCTTCGGTGGAGCAGCAGCGCAGCAG[G/A]CGAGTTTGTGTGTGTGTGTGTGTGTGCTGAAGACTGATGAGCCGTGACTGATTGAAATCATTTTTATTGCCTCTTCACTGTGCAACATTTAACCCAGTGTGTGTCTGAGTTTGACATCAGGATGTCTGAAAGTGAGCTGGAAATTGATGTGCTGTTTGTGTCAGGAAGCTGTATTTTATGGAGACGGATCAGTCTCACAAATACTACAAGTCAACTTGGGACAGTATGGAAAACGCAAATACAAAGAGAAAGTAGTGATTTAGAAATGTCCTTTGACTTGTATTTCATTGCAGACAGCATGAGCACAACATATTTCATGTTTTGTCTGGTCAACCTCATTTCATTTGTAAATAAATCCCTGTCATTCAGACCTGCAACACACTCCAAAACAAGCTGGGACAGGAGCAGCTTAGGGCAGTAATCAGGTAAACTGGTTAAATAACGATATGATTTGAAACAGGTGATGTCAACAGGTGATTATAATTATGATTTGGTACAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27283
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053768 | None | None | 1326 | None | 22 |
| ENSDART00000127709 | Essential Splice Site | 906 | 1300 | 17 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53401820)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51144115 |
| GRCz11 | 8 | 51133137 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTTTTTTTTTCCCTTCTCTGGTAAGGTTATTCTCTTGTATATGTGCTC[A/G]GCTCCTGCCCAGGTGAAGATCTCCAGGACATCAGGCTTTAACCCCTGCAG
Long Flanking Sequence:
GGTTGGCTGGTTTTAGTTGGTCGACCAGCCTGGCTTTAGAGGGGTTTTGGTTACTTTAAGACTGGTTTTCAGCCATTTCCAGCCTGGTTTTAGCTGGACAAGCTGGGACTTTCCAGCCTGACCAGCTTAGACCAGGCTGGAAATGACAAGTTGGGACTTTCCAGCCTGACCAGCTAAGACCAGGCTGGAAATGACTGGAAACCAGTCTTAAAGTAACCAAAACCCCTCTAAAACCAGGCTGGTCGACCAACTAAAACCAGCCAACCATCCTAGGCTGGTTTGAGCTGGAATTTTCAGCAGGGTGGAGCAAGGGGTGTGCTTATTTTTCACAAGGGCCAACCCATGAGGGACTTTAAAGTAACTGATGTTGGATTTTTAGAGATCTCTTTATACATTGTGTGAGAAAAACGTATCTGACAACAAATGTTTTCCACATTGTCAACTATTGTCAGCTTTTTTTTTCCCTTCTCTGGTAAGGTTATTCTCTTGTATATGTGCTC[A/G]GCTCCTGCCCAGGTGAAGATCTCCAGGACATCAGGCTTTAACCCCTGCAGTGGAGGTAAATGTGGGAAGCCAGCCGTGCGCCCTCTAGTGGATACCGGAGCCATGGTGTTTGTGGTGTTCGGCATACTGGGGGTGAACCGCACTCAACGCTTAGACAACCATGTTATTGGAGACCTGGTAAGAAGCAATTGAAAATGAGCTCAGAAAGTCACTTGGTAAATATGTTTGGGAATATTCATAATCAATATAATCAAACTTTGCTGAAAAAAATAGGCATGCAATTTACTACATTCCCTCTATTGTCTGATTTATATTTTATACTGTAATTTTAGGGAGCTTTCACACCTGTGAATCGATTCAGTTGTTCCGAAACAGAGATTACAATTGTTACATTGTTGCTCTTTGTTCTTGGAGCGGTTCGCTTTCACATTGCAAAGTTTCTAATCGGACCAAAAGAGCTAAAACAAGTCAGGTGCGAGTAAACTCTGCTCACATTGGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34507
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 |
|---|---|---|---|---|---|
| ENSDART00000053768 | Essential Splice Site | 990 | 1326 | 16 | 22 |
| ENSDART00000127709 | Essential Splice Site | 965 | 1300 | 18 | 24 |
| ENSDART00000131312 | None | None | 518 | None | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 53403504)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 51145790 |
| GRCz11 | 8 | 51134812 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTTATGAATTATTAATGCACTGATTTGTTGACGTTCCTCCTCCTCAAA[G/T]GGCAATGTGATCTATGACCAAGACTTTGATGTTTTTAATGAGATCGGCCA
Long Flanking Sequence:
GTAGTTCATTATTAGTTCATGTTAACTCATGGTGCATTAACTAATGTTAACAAGCATGGACTTGGATGTTAATAATGCATTAGTAAATGTTCAATTATGATTAATAAAAGCTGTACATGATTAGTTCATGTTAGTAAATGCATTAACTAATGAACCTTATTGTAAAGTGTTACCGAATTACTTTTGTTTTGTCAGCAATATTTCAATATAAACATATACTTTAATTTTCTGAAAAGTAAAATTCCATAATGTGAATATCAAATATAATCAATCATTTTTATTAGTACAGATCTTTGATCATAAAATGAGATATCATTATACTAAGATGCTTTACTGGGAACAAATAAAGGTGCTGTATGTACGTTTTTGACTCTTCTAAAGCAAGAAAAGGCCTCATTTCAATGCGCTCCCAATCTGTGCACTGTACATTGATTGTTTTCTTTTGAAGCTGATTTATGAATTATTAATGCACTGATTTGTTGACGTTCCTCCTCCTCAAA[G/T]GGCAATGTGATCTATGACCAAGACTTTGATGTTTTTAATGAGATCGGCCACTTGTGCAAGCTGTGCAAAGTCATCAGTGCCAACACCAACCTGGTGAAGCCTGGAGGAGCTCAGTGTTTGCCATCAGGTGAGCAAGAATCATTCGTTCATTCCTTTTCCTTTGTCTTAGTCCATTATTTACACAGCGGAATGAACCGCCAACTATTCCAGCATATGTTTTACGCAGCGGATGCCCTTCCAGCCGCAACCCAGTATCGGGAATCACCCATACACACTTACATTCGCACACAGACTCAAACACTATGGTTAATTTCGTTTACCCAATTCACCTATAGCGCTTGTGTTTGGACTGTGAGGGAAACCGGAGCACCCATTGAGCCACTGAGAATTTAGGAATTTGTAATGTTGCCATTTCTTTTCACAACACTTAAAAGGTGTTTAGGGACTGAAGACACAAGTGACGAAGTATTTCAGGTGTAATTTTGTCTCATTCTTCCTGC
Associated Phenotype:
Not determined