ZMP
si:dkeyp-81e1.5
Ensembl ID:
ZFIN ID:
Human Orthologue:
TRPC5
Human Description:
transient receptor potential cation channel, subfamily C, member 5 [Source:HGNC Symbol;Acc:12337]
Mouse Orthologue:
Trpc5
Mouse Description:
transient receptor potential cation channel, subfamily C, member 5 Gene [Source:MGI Symbol;Acc:MGI:1
Alleles
There are 9 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13112 | Nonsense | Available for shipment | Available now |
| sa19266 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa10159 | Nonsense | Available for shipment | Available now |
| sa23990 | Nonsense | Available for shipment | Available now |
| sa23991 | Missense, Nonsense | Available for shipment | Available now |
| sa23992 | Nonsense | Available for shipment | Available now |
| sa44972 | Missense, Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa43685 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa29635 | Essential Splice Site, Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa13112
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 |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 59 | 781 | 1 | 12 |
| ENSDART00000141770 | Nonsense | 74 | 428 | 1 | 5 |
| ENSDART00000148115 | Nonsense | 91 | 1012 | 2 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33133180)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34132873 |
| GRCz11 | 21 | 34167363 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGTGATTATGCCGGAGTTAAACAGGCCCTTGAGGAGGCARATATMTATTA[C/A]AACATTAATGTGAACTGCCTAGACCCGTTAGGCCGCAGTGCGCTCCTCAT
Long Flanking Sequence:
TTTAAGGTACAATTCTGTTCCATAAAAAGGTACTGCCCCAGTGACAAGGGTTTGCACCTTCTTTGGTTCGACATTGTACCCTTTTTATCTGAGAGTGTATTGTATTTTGTATGCTCATGTGAAATATAAATTTCTGCTCACAATCGCTGTGCAGACAATAAAGTAAACATTCACACTAATAGAACGTTTTGTACTACTTTTGTATTTGTTTTAATTCAACATCCTAAAAGAAACATAGAGTAAACTTGAAAAAAGCAATCTGATTTGTTCTCTTGCAGCATTCTCTGGACTTGTGCCGTCTCATTCAAAGTCCACATGAACCTCATGGCGCAGCTGTACTACAACAAGGCCAGTAACTCTCCATACCTGGACCGTATCCCTCTGCAGATCGTGAGGGCAGAAGTTGAGCTGTCTGCCAAGGAACGAGCATATCTGACGGCAGTGGAGAAGGGTGATTATGCCGGAGTTAAACAGGCCCTTGAGGAGGCAGATATATATTA[C/A]AACATTAATGTGAACTGCCTAGACCCGTTAGGCCGCAGTGCGCTCCTCATTGCTATCGAGAATGAGAACCTGGAGGTGATGGAGCTGCTATTGAGTCATGGCGTGCATACTGGTGATGCGCTCCTCTATGCTATCCGCAAGGAAGTGGTGGGAGCTGTTGAGTTACTGCTATCCTACAGGAAGCCCTGTGGCGAGAAACAAGTGAGTGAAGCTGTAGCTTTATCTGAAAGGACAGTGTATGTGATATTTATATGTGCAAGTTACTTCCAAACTGTAATACATTACAGATTACTTGTTACTGTTATTTAAAAGTAATCCCTTACCTTACAATATTACTGTATCAGAATTGTAATATGTTACATGACTCTTATATTACTTTTTAGTTATTTTCACCAAAATAACTACAGAATAAGAACATTACATTCAAAAATGACAAAATGTAAACTGCAGAGCATTTTACATCTAGAAGAAAGCGATATGATGTAGCAGAATGACTGTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19266
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 348 | 781 | 3 | 12 |
| ENSDART00000141770 | Nonsense | 363 | 428 | 3 | 5 |
| ENSDART00000148115 | Nonsense | 380 | 1012 | 4 | 10 |
| ENSDART00000086115 | Nonsense | 348 | 781 | 3 | 12 |
| ENSDART00000141770 | Nonsense | 363 | 428 | 3 | 5 |
| ENSDART00000148115 | Nonsense | 380 | 1012 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33141715)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34141408 |
| GRCz11 | 21 | 34175898 |
KASP Assay ID:
2261-5870.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCACATGCTTCATCATTGGTCTGCTCTTCCCTGTATTCTCCATCATATA[C/A]CTTCTGGCTCCAAAGAGCACACTGGGAACCTTTATTAAGAAACCATTCAT
Long Flanking Sequence:
GTTCCTAAAGGTGTCAGGACTTTTCATCTTGATGACACTGATACTTTTATTGACATCACTACTTGCTTTTGAGGAATGAGCTCTCCATTTTGAGCAAGTGACACACTTGTGCAGGTTATCAACTAGGTTTTGCAGTTTGTACAGATTGTTTTGAGAAATGCATTAACTGTTGTGCAAATGTAAATAGTGTTGTGAGAAATGCACTAAAGCAACTGAGAAAAACTGTAATGTCTTTTACACTAATGGGTACATGTACGTCAGAAAAAAAATAACATGCCAAGTAACCAATAGCAACTTTATATGTATTTGTCAAGAATTTTTACTCTTTTATTAATACAAAATATTATATAATTTCAGTTTGTTGCTCAGCCCAACTGCCAACAACTCCTGGCAACACTGTGGTATGATGGTTTCCCGGGCTGGAGGCGACGTCATTGGGCAGTGAAGCTTGTCACATGCTTCATCATTGGTCTGCTCTTCCCTGTATTCTCCATCATATA[C/A]CTTCTGGCTCCAAAGAGCACACTGGGAACCTTTATTAAGAAACCATTCATCAAGTTCATCTGCCACACAGCCTCCTATCTGACCTTCCTCTTCCTCCTCCTCCTCGCTTCACAGCATATTGTTCAGACTGATCTGCATGTACAGGGACCTCCACCAACATTTGTTGAGTGGATGATCTTACCTTGGGTTCTAGGTAAGTCTTTTTGGTATACATTGAGTTCAAAAACAGGATAGATAGGTGGATGGATTGATGGATGGATGGATGGATGGATGGATGATTGGTAGGTAGATAGATAGATAGATAGATAGATAGCTTACTTTGATCACTTTAAATGACTCAATTGCATGAGTCATTACAATTATTTAATTATTAGAGTATTAATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10159
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 |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 348 | 781 | 3 | 12 |
| ENSDART00000141770 | Nonsense | 363 | 428 | 3 | 5 |
| ENSDART00000148115 | Nonsense | 380 | 1012 | 4 | 10 |
| ENSDART00000086115 | Nonsense | 348 | 781 | 3 | 12 |
| ENSDART00000141770 | Nonsense | 363 | 428 | 3 | 5 |
| ENSDART00000148115 | Nonsense | 380 | 1012 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33141715)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34141408 |
| GRCz11 | 21 | 34175898 |
KASP Assay ID:
2261-5870.1 (used for ordering genotyping assays)
KASP Sequence:
GTCACATGCTTCATCATTGGTCTGCTCTTCCCTGTATTCTCCATCATAYA[C/A]CTTCTGGCTCCAAAGAGCACACTGGGAACCTTTATTAAGAAACCATTCAT
Long Flanking Sequence:
GTTCCTAAAGGTGTCAGGACTTTTCATCTTGATGACACTGATACTTTTATTGACATCACTACTTGCTTTTGAGGAATGAGCTCTCCATTTTGAGCAAGTGACACACTTGTGCAGGTTATCAACTAGGTTTTGCAGTTTGTACAGATTGTTTTGAGAAATGCATTAACTGTTGTGCAAATGTAAATAGTGTTGTGAGAAATGCACTAAAGCAACTGAGAAAAACTGTAATGTCTTTTACACTAATGGGTACATGTACGTCAGAAAAAAAATAACATGCCAAGTAACCAATAGCAACTTTATATGTATTTGTCAAGAATTTTTACTCTTTTATTAATACAAAATATTATATAATTTCAGTTTGTTGCTCAGCCCAACTGCCAACAACTCCTGGCAACACTGTGGTATGATGGTTTCCCGGGCTGGAGGCGACGTCATTGGGCAGTGAAGCTTGTCACATGCTTCATCATTGGTCTGCTCTTCCCTGTATTCTCCATCATATA[C/A]CTTCTGGCTCCAAAGAGCACACTGGGAACCTTTATTAAGAAACCATTCATCAAGTTCATCTGCCACACAGCCTCCTATCTGACCTTCCTCTTCCTCCTCCTCCTCGCTTCACAGCATATTGTTCAGACTGATCTGCATGTACAGGGACCTCCACCAACATTTGTTGAGTGGATGATCTTACCTTGGGTTCTAGGTAAGTCTTTTTGGTATACATTGAGTTCAAAAACAGGATAGATAGGTGGATGGATTGATGGATGGATGGATGGATGGATGGATGATTGGTAGGTAGATAGATAGATAGATAGATAGATAGCTTACTTTGATCACTTTAAATGACTCAATTGCATGAGTCATTACAATTATTTAATTATTAGAGTATTAATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23990
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 |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 418 | 781 | 3 | 12 |
| ENSDART00000141770 | None | None | 428 | None | 5 |
| ENSDART00000148115 | None | None | 1012 | None | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33141925)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34141618 |
| GRCz11 | 21 | 34176108 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGTTGAGTGGATGATCTTACCTTGGGTTCTAGGTAAGTCTTTTTGGTA[T/A]ACATTGAGTTCAAAAACAGGATAGATAGGTGGATGGATTGATGGATGGAT
Long Flanking Sequence:
AACTGAGAAAAACTGTAATGTCTTTTACACTAATGGGTACATGTACGTCAGAAAAAAAATAACATGCCAAGTAACCAATAGCAACTTTATATGTATTTGTCAAGAATTTTTACTCTTTTATTAATACAAAATATTATATAATTTCAGTTTGTTGCTCAGCCCAACTGCCAACAACTCCTGGCAACACTGTGGTATGATGGTTTCCCGGGCTGGAGGCGACGTCATTGGGCAGTGAAGCTTGTCACATGCTTCATCATTGGTCTGCTCTTCCCTGTATTCTCCATCATATACCTTCTGGCTCCAAAGAGCACACTGGGAACCTTTATTAAGAAACCATTCATCAAGTTCATCTGCCACACAGCCTCCTATCTGACCTTCCTCTTCCTCCTCCTCCTCGCTTCACAGCATATTGTTCAGACTGATCTGCATGTACAGGGACCTCCACCAACATTTGTTGAGTGGATGATCTTACCTTGGGTTCTAGGTAAGTCTTTTTGGTA[T/A]ACATTGAGTTCAAAAACAGGATAGATAGGTGGATGGATTGATGGATGGATGGATGGATGGATGGATGATTGGTAGGTAGATAGATAGATAGATAGATAGATAGCTTACTTTGATCACTTTAAATGACTCAATTGCATGAGTCATTACAATTATTTAATTATTAGAGTATTAATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAACAGTGGGGCTAATAAATCAGGGGGGCTAATACTGTAATTCTGACTTTAACTGTATATCATTTAGCCACTACTGTAAATGTGTTGTAGAAAAAAGGTTTTTACAGTACTGAATTATTTCATTTGTATCCATTAGTACAACAGCTCTCGTCCTCGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATTTGCTATTGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23991
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:
Missense, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Missense | 470 | 781 | 6 | 12 |
| ENSDART00000141770 | None | None | 428 | 5 | 5 |
| ENSDART00000148115 | Nonsense | 468 | 1012 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33142416)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34142109 |
| GRCz10 | KN150502.1 | 10813 |
| GRCz11 | 21 | 34176599 |
| GRCz11 | KN150502.1 | 10813 |
KASP Assay ID:
2261-5872.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATT[T/A]GCTATTGCCAACATCTTCAGCTCCCTGCGTCTCATCTCTTTGTTCACTGC
Long Flanking Sequence:
TTTTTGGTATACATTGAGTTCAAAAACAGGATAGATAGGTGGATGGATTGATGGATGGATGGATGGATGGATGGATGATTGGTAGGTAGATAGATAGATAGATAGATAGATAGCTTACTTTGATCACTTTAAATGACTCAATTGCATGAGTCATTACAATTATTTAATTATTAGAGTATTAATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAACAGTGGGGCTAATAAATCAGGGGGGCTAATACTGTAATTCTGACTTTAACTGTATATCATTTAGCCACTACTGTAAATGTGTTGTAGAAAAAAGGTTTTTACAGTACTGAATTATTTCATTTGTATCCATTAGTACAACAGCTCTCGTCCTCGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATT[T/A]GCTATTGCCAACATCTTCAGCTCCCTGCGTCTCATCTCTTTGTTCACTGCCAACTCTCACTTGGGCCCACTGCAAATCTCTCTCGGTCGCATGTTGCTGGACATTCTCAAGTTCCTTTTCATCTACTGTTTGGTGCTTCTGGCCTTTGCCAATGGCCTCAACCAACTCTATTTCTACTATGAGACAAAGGCATCTGAAGAGCCCAACAACTGCAAAGGGATTCGTTGTGAAAAGCAGAATAACGCCTTTTCCACGTGAGTGAAAAAGCATTTAGTCATCTAGTAGAATATTTAGGCTACTGAAAAAATAAACTTTTAAGAACCTATTATGGAAATATTATACTTTGCATACGAGCAATCTCCCACATGTGGTCATTCAATAAATCAGTAAGTAGATTTTCACATTTGGGCATGCAGTATTAGCTCAAGAGAAATATTAGCAATTAATTATATTTAGCTGTAATTTTTAGATTTTACTTAACAATTTTTACTACATGCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23992
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 507 | 781 | 6 | 12 |
| ENSDART00000141770 | None | None | 428 | 5 | 5 |
| ENSDART00000148115 | None | 504 | 1012 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33142525)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34142218 |
| GRCz10 | KN150502.1 | 10704 |
| GRCz11 | 21 | 34176708 |
| GRCz11 | KN150502.1 | 10704 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTGGGCCCACTGCAAATCTCTCTCGGTCGCATGTTGCTGGACATTCTC[A/T]AGTTCCTTTTCATCTACTGTTTGGTGCTTCTGGCCTTTGCCAATGGCCTC
Long Flanking Sequence:
ATAGCTTACTTTGATCACTTTAAATGACTCAATTGCATGAGTCATTACAATTATTTAATTATTAGAGTATTAATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAACAGTGGGGCTAATAAATCAGGGGGGCTAATACTGTAATTCTGACTTTAACTGTATATCATTTAGCCACTACTGTAAATGTGTTGTAGAAAAAAGGTTTTTACAGTACTGAATTATTTCATTTGTATCCATTAGTACAACAGCTCTCGTCCTCGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATTTGCTATTGCCAACATCTTCAGCTCCCTGCGTCTCATCTCTTTGTTCACTGCCAACTCTCACTTGGGCCCACTGCAAATCTCTCTCGGTCGCATGTTGCTGGACATTCTC[A/T]AGTTCCTTTTCATCTACTGTTTGGTGCTTCTGGCCTTTGCCAATGGCCTCAACCAACTCTATTTCTACTATGAGACAAAGGCATCTGAAGAGCCCAACAACTGCAAAGGGATTCGTTGTGAAAAGCAGAATAACGCCTTTTCCACGTGAGTGAAAAAGCATTTAGTCATCTAGTAGAATATTTAGGCTACTGAAAAAATAAACTTTTAAGAACCTATTATGGAAATATTATACTTTGCATACGAGCAATCTCCCACATGTGGTCATTCAATAAATCAGTAAGTAGATTTTCACATTTGGGCATGCAGTATTAGCTCAAGAGAAATATTAGCAATTAATTATATTTAGCTGTAATTTTTAGATTTTACTTAACAATTTTTACTACATGCTTTTACTTGACGATGTCCCTGGATAAAGTGTTTATTCCTTTAAAGAATGTTAATTTCCAGCTCATAAGAAATAACTTTCCATTTATTCCCATTCTGATGCTGTTTTTGAGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44972
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:
Missense, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 530 | 781 | 6 | 12 |
| ENSDART00000141770 | None | None | 428 | 5 | 5 |
| ENSDART00000148115 | Missense | 528 | 1012 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33142596)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34142289 |
| GRCz10 | KN150502.1 | 10633 |
| GRCz11 | 21 | 34176779 |
| GRCz11 | KN150502.1 | 10633 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGTGCTTCTGGCCTTTGCCAATGGCCTCAACCAACTCTATTTCTACTA[T/A]GAGACAAAGGCATCTGAAGAGCCCAACAACTGCAAAGGGATTCGTTGTGA
Long Flanking Sequence:
AATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAACAGTGGGGCTAATAAATCAGGGGGGCTAATACTGTAATTCTGACTTTAACTGTATATCATTTAGCCACTACTGTAAATGTGTTGTAGAAAAAAGGTTTTTACAGTACTGAATTATTTCATTTGTATCCATTAGTACAACAGCTCTCGTCCTCGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATTTGCTATTGCCAACATCTTCAGCTCCCTGCGTCTCATCTCTTTGTTCACTGCCAACTCTCACTTGGGCCCACTGCAAATCTCTCTCGGTCGCATGTTGCTGGACATTCTCAAGTTCCTTTTCATCTACTGTTTGGTGCTTCTGGCCTTTGCCAATGGCCTCAACCAACTCTATTTCTACTA[T/A]GAGACAAAGGCATCTGAAGAGCCCAACAACTGCAAAGGGATTCGTTGTGAAAAGCAGAATAACGCCTTTTCCACGTGAGTGAAAAAGCATTTAGTCATCTAGTAGAATATTTAGGCTACTGAAAAAATAAACTTTTAAGAACCTATTATGGAAATATTATACTTTGCATACGAGCAATCTCCCACATGTGGTCATTCAATAAATCAGTAAGTAGATTTTCACATTTGGGCATGCAGTATTAGCTCAAGAGAAATATTAGCAATTAATTATATTTAGCTGTAATTTTTAGATTTTACTTAACAATTTTTACTACATGCTTTTACTTGACGATGTCCCTGGATAAAGTGTTTATTCCTTTAAAGAATGTTAATTTCCAGCTCATAAGAAATAACTTTCCATTTATTCCCATTCTGATGCTGTTTTTGAGGCTCCTGTTGATCTTTGCTGAAGTTTGTTAGAGTTCCAAGGGTTCTGAGGTATGAAAAGACAAGGCTAAGCCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43685
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Nonsense | 542 | 781 | 6 | 12 |
| ENSDART00000141770 | None | None | 428 | 5 | 5 |
| ENSDART00000148115 | None | 539 | 1012 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33142630)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34142323 |
| GRCz10 | KN150502.1 | 10599 |
| GRCz11 | 21 | 34176813 |
| GRCz11 | KN150502.1 | 10599 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTCTATTTCTACTATGAGACAAAGGCATCTGAAGAGCCCAACAACTGC[A/T]AAGGGATTCGTTGTGAAAAGCAGAATAACGCCTTTTCCACGTGAGTGAAA
Long Flanking Sequence:
AAATGAGTTATTAAAACTATTATGTTCAGTAATATGCTGAAAAAAATCTTCTCTCCATGAAACAGACAATGGGGAAAAAATAAAACAGTGGGGCTAATAAATCAGGGGGGCTAATACTGTAATTCTGACTTTAACTGTATATCATTTAGCCACTACTGTAAATGTGTTGTAGAAAAAAGGTTTTTACAGTACTGAATTATTTCATTTGTATCCATTAGTACAACAGCTCTCGTCCTCGTGTGGAGTGGGAAATGTGGCACCCAACACTCATCGCTGAGGCTCTATTTGCTATTGCCAACATCTTCAGCTCCCTGCGTCTCATCTCTTTGTTCACTGCCAACTCTCACTTGGGCCCACTGCAAATCTCTCTCGGTCGCATGTTGCTGGACATTCTCAAGTTCCTTTTCATCTACTGTTTGGTGCTTCTGGCCTTTGCCAATGGCCTCAACCAACTCTATTTCTACTATGAGACAAAGGCATCTGAAGAGCCCAACAACTGC[A/T]AAGGGATTCGTTGTGAAAAGCAGAATAACGCCTTTTCCACGTGAGTGAAAAAGCATTTAGTCATCTAGTAGAATATTTAGGCTACTGAAAAAATAAACTTTTAAGAACCTATTATGGAAATATTATACTTTGCATACGAGCAATCTCCCACATGTGGTCATTCAATAAATCAGTAAGTAGATTTTCACATTTGGGCATGCAGTATTAGCTCAAGAGAAATATTAGCAATTAATTATATTTAGCTGTAATTTTTAGATTTTACTTAACAATTTTTACTACATGCTTTTACTTGACGATGTCCCTGGATAAAGTGTTTATTCCTTTAAAGAATGTTAATTTCCAGCTCATAAGAAATAACTTTCCATTTATTCCCATTCTGATGCTGTTTTTGAGGCTCCTGTTGATCTTTGCTGAAGTTTGTTAGAGTTCCAAGGGTTCTGAGGTATGAAAAGACAAGGCTAAGCCTGGCACAAGTTTAGGTTGTGGTTGGAGAAGACTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29635
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, Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086115 | Splice Site | 555 | 781 | 7 | 12 |
| ENSDART00000141770 | None | None | 428 | None | 5 |
| ENSDART00000148115 | Essential Splice Site | 553 | 1012 | 6 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 33161493)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 34161186 |
| GRCz11 | 21 | 34195676 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTTGCTTTTGCACCTTTCATTAATTTATTCTCTCTTTGACTTCACAG[G/A]CTCTTCGAAACTCTTCAGTCTCTCTTCTGGTCTGTGTTCGGGCTGTTGAA
Long Flanking Sequence:
GATGGTGGATATTGGTGGGGACACGTCCCCTCCATTTATGCTAAATGTCCCTGGTCCCTTCCCACCAGGCACATAGCGTCATAAGACGTTAATATTAGGTTAGATATAAGTCATGATGTCAGGTGACTAAAATTCAATGTCTAACCAGCATCTAAGGACAACGTTATTTTCACATCCAATAACGACGTCAAATTACGTTGGTATTTGGTTGATTTAAGGTTGTGTTGGAGGGTGACCAAAATCTAATGTCTTATGGATGTCATAGTGGTAACGAAGTTTTGTTCTGATGTCAACTCCATTTTCATTTCCAAACAAAATCCAATGCCCCCACAACATTAGGGTACAATGTCAATATGACGTCATGTTGAGGTCCTGTGCCTGTAGGAATAGGTGTATTACAGTTAGCTCCCAGTATTTCTTATTGTAAAATCGGGGAAATGGCGATGGCAGTTTTTTGCTTTTGCACCTTTCATTAATTTATTCTCTCTTTGACTTCACAG[G/A]CTCTTCGAAACTCTTCAGTCTCTCTTCTGGTCTGTGTTCGGGCTGTTGAATCTGTATGTTACCAATGTGAAGGCTCGTCACGAATTCACAGAGTTTGTAGGAGCCACCATGTTTGGCACTTACAACGTCATCTCTCTGGTGGTACTATTGAACATGCTCATTGCTATGATGAACAACTCCTACCAGCTTATCGCTGTGAGTGTCGTTAAATACTGCTGATAATTTTTCAGAATGTTTCACCTCAGTTGTTTGAGAATGGATGTAGAGTTAAAAAAATTTTGAGCAGTTTAAAAATGTTCGGTCAGCTGCTGTAATTGTGCTCTTATAGGGTGAAACAACTTTGCACTTAAATTTGAAGCATTAAAACTCACCAACCATCAACAATGCAGATTTAATTAATGTTCTAAAAAAGTAAAAAACAAAAATTCAGTTTTAGGAAAGTGTCAGGGTTTTTGATTCTGTGCAAATGTCATGTCATAAATTGGTAAAATTTTCTAACT
Associated Phenotype:
Not determined