ZMP
vps13d
Ensembl ID:
ZFIN ID:
Human Orthologue:
VPS13D
Human Description:
vacuolar protein sorting 13 homolog D (S. cerevisiae) [Source:HGNC Symbol;Acc:23595]
Mouse Orthologue:
Vps13d
Mouse Description:
vacuolar protein sorting 13 D (yeast) Gene [Source:MGI Symbol;Acc:MGI:2448530]
Alleles
There are 15 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa9084 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37692 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa16971 | Nonsense | Available for shipment | Available now |
sa45002 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37691 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa551 | Essential Splice Site | F2 line generated | Not yet available |
sa43971 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa31088 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa24315 | Essential Splice Site | Available for shipment | Available now |
sa24314 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9084
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 |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 1277 | 4361 | 18 | 68 |
ENSDART00000145408 | Nonsense | 1272 | 2099 | 19 | 25 |
ENSDART00000148128 | None | None | 2233 | None | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22049007)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21828314 |
GRCz11 | 23 | 21754865 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATGGWGYGGCATTCTTTCCYATTGCTGGCATGACTCCTTCCGAAGCTT[T/A]AAGTTTCCGCTTTATGGAAAAATCTCAAGGAGAATGCTCCCTTCAACTTC
Long Flanking Sequence:
TTCACTTCAAGTCACCTCCATGCAGGTCAACAACCTGGATATCATCCTTAACCCTGAAACCATGGTAGAGCTTCTAAAATTCCTTCAGCAGTCTTTCCCTAAAGAAGAAAGCTCTCCAACACAACAGATAGCACCTCTGCCTAATGGAGAAGAAAATGAGGAGAATTATCAATCCACTTATGTCCAGAACAAAGAACTGACTGTTGAAATTCACAGGTTAAACTTACTTCTTCTAAGAACTGTTACAACTGGTACTGTTTTGGGAGGTGAGAAGAAAGGCATGAAAATTGCTACGGCCAGTATAAATGGGACAAAAGTCAATGTGTCAATGGGAAGTCGGTTGGATGTCAATGGTTCTCTAGGATGCATTCAGCTTGTGGACTTGACTCAGGAAGGTGGCAGAAGTCAGTTTGTGGTCAGTATTGGAAGTGCAGAGGACAGCACCGCTACAGATGGTGTGGCATTCTTTCCTATTGCTGGCATGACTCCTTCCGAAGCTT[T/A]AAGTTTCCGCTTTATGGAAAAATCTCAAGGAGAATGCTCCCTTCAACTTCAGATGGCATCTTTACACTATAACCACTCAGCAAAGTTCCTGAAAGAGCTCAGTTTATCAGCAAATGAAGTAGAGGATAACTTCAGGTTTATGCTGAAGACTGCTGCTACAAAGGTCTCTACTGTATTGGTGACGAAAACAGCAGAGTACAGTGGAATGGTGTCTCTCTTTGACAACCCATCCAGAAGATCTAGGAGGCAGAGTCAATGCAACTGGACACTTGACCCATTCGAGGAAGATGATTTCTGTGACCCTGAAAAAGAACCAGCCTTAGATTCTTTTCTGGTCAAGCTGACTCTAGATGTTAGTATAGAGTCCCCAGTTGTGTCAATTCCTAGAAAGCCTGGTCACCCTGAGCTGCTAGTTGGACATTTAGGGAGCATACAAATTCAGAACTTTGTTACAGGGCAAGACTCAGAAAGGGAGAAACTACAAGTTGAAGTAAAAGATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37692
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 |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 1526 | 4361 | 19 | 68 |
ENSDART00000145408 | Nonsense | 1521 | 2099 | 20 | 25 |
ENSDART00000148128 | None | None | 2233 | None | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22048132)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21827439 |
GRCz11 | 23 | 21753990 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCACTGTCGAGAAAGTCCCTGTTGACGAAAACTCTACCTTTACCTTTT[T/A]GTCTTGTGATGAACCTTACCAGAGCACAGGGATATTAAGAGTAGAAGGCA
Long Flanking Sequence:
TGTCAATTCCTAGAAAGCCTGGTCACCCTGAGCTGCTAGTTGGACATTTAGGGAGCATACAAATTCAGAACTTTGTTACAGGGCAAGACTCAGAAAGGGAGAAACTACAAGTTGAAGTAAAAGATATAAGACTTTATTCAGTGAACACAAGCAACTTGTTTTTAAAGAAAGGAGCAAGACTCAACAGCAGCACCACTTCCGGACCCTCACCTTCTCATGGTGGCAACATTAGTTTGAATGAGCCACAGTTTACACGACATGACTTCTTTGAGTACATTAGCAGAGGAAAAGGTAAGTTTTTTTGTTTGTTTTGTTTTGAGTTAAATTTTGGGAATTCACTAAACCTTATTTTATCCTTTATGTTTTAATATATGCTTTAAGGCATTTAAAACTGTTTCTATGTTTTCTTTGTTTTTCAGCATTTCACATTTTAAAAGATGCTACAATCCAGCTCACTGTCGAGAAAGTCCCTGTTGACGAAAACTCTACCTTTACCTTTT[T/A]GTCTTGTGATGAACCTTACCAGAGCACAGGGATATTAAGAGTAGAAGGCAAATTTGTTAACGCTGTTCAGGTAAAGAACCACAAAATAGCACAACAGCTGAATATTTGTCATATACACAACTTTGATATTTAATTTGACATATTTTCCCTCAGGTATGTCTCTGCAAGCCTGTGTATGAACAGGTCCTTCAGACTCTCGATAATCTCTCCTTCACTGAAGATCAACGAGTAACCCCAAGTCAACCACCTACCCCACCACCTCCCACACCCTCCTCCACTAAACCACACAGATTCCCTGATCATCAAGGTGGGCTCTTTGCCCGAGACCCTCCTCATGGTGGAGTGTCTTATTCTACACTGTCATCATCTCTTTCAGCAACACTTCCACTGCATAATGAGAGCCCTCCTCTCCAGCCTCCTTCTTTTACCCAAGTGAGGGCCACCTTTCGAGTCTCTGAGCTGCAAGTGCAGTTAAGTGGAGACCTCAGCCAAGGATCTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16971
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 1530 | 4361 | 19 | 68 |
ENSDART00000145408 | Nonsense | 1525 | 2099 | 20 | 25 |
ENSDART00000148128 | None | None | 2233 | None | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22048121)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21827428 |
GRCz11 | 23 | 21753979 |
KASP Assay ID:
2261-7661.1 (used for ordering genotyping assays)
KASP Sequence:
AGAAAGTCCCTGWTGACGAAAACTCTACCTTTACCTTTTTGTCTTGTGAT[G/T]AACCTTACCAGAGCACAGGGATATTAAGAGTAGAAGGCAAATTTGTTAAC
Long Flanking Sequence:
AGAAAGCCTGGTCACCCTGAGCTGCTAGTTGGACATTTAGGGAGCATACAAATTCAGAACTTTGTTACAGGGCAAGACTCAGAAAGGGAGAAACTACAAGTTGAAGTAAAAGATATAAGACTTTATTCAGTGAACACAAGCAACTTGTTTTTAAAGAAAGGAGCAAGACTCAACAGCAGCACCACTTCCGGACCCTCACCTTCTCATGGTGGCAACATTAGTTTGAATGAGCCACAGTTTACACGACATGACTTCTTTGAGTACATTAGCAGAGGAAAAGGTAAGTTTTTTTGTTTGTTTTGTTTTGAGTTAAATTTTGGGAATTCACTAAACCTTATTTTATCCTTTATGTTTTAATATATGCTTTAAGGCATTTAAAACTGTTTCTATGTTTTCTTTGTTTTTCAGCATTTCACATTTTAAAAGATGCTACAATCCAGCTCACTGTCGAGAAAGTCCCTGTTGACGAAAACTCTACCTTTACCTTTTTGTCTTGTGAT[G/T]AACCTTACCAGAGCACAGGGATATTAAGAGTAGAAGGCAAATTTGTTAACGCTGTTCAGGTAAAGAACCACAAAATAGCACAACAGCTGAATATTTGTCATATACACAACTTTGATATTTAATTTGACATATTTTCCCTCAGGTATGTCTCTGCAAGCCTGTGTATGAACAGGTCCTTCAGACTCTCGATAATCTCTCCTTCACTGAAGATCAACGAGTAACCCCAAGTCAACCACCTACCCCACCACCTCCCACACCCTCCTCCACTAAACCACACAGATTCCCTGATCATCAAGGTGGGCTCTTTGCCCGAGACCCTCCTCATGGTGGAGTGTCTTATTCTACACTGTCATCATCTCTTTCAGCAACACTTCCACTGCATAATGAGAGCCCTCCTCTCCAGCCTCCTTCTTTTACCCAAGTGAGGGCCACCTTTCGAGTCTCTGAGCTGCAAGTGCAGTTAAGTGGAGACCTCAGCCAAGGATCTCAAGGGTTGGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45002
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 |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 2008 | 4361 | 23 | 68 |
ENSDART00000145408 | Nonsense | 2003 | 2099 | 24 | 25 |
ENSDART00000148128 | None | None | 2233 | None | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22046330)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21825637 |
GRCz11 | 23 | 21752188 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCGAGAATATGATATGAAGGTGTCTCTACAGATGGCCTCAGTACAGTA[T/A]GTCCATACGCAGCGCTTCCAGGCTGAGGTAGTGGCCTTTATCCAACACTT
Long Flanking Sequence:
TTTTTTTTCCTAAAATTTGCAACAATTTTCTTTACAGGTTCATTCTTTATCTCTGGTGTTGAGGAAGAAAACCAATGAGCTTGCCAAAGCTAGCGTCTCTAAACTGTTTACACATATGGAAATGATTGGTTTGTACAACATTTGTAAAACAGGCTTTTTTCCCCAATGTTGGCTTTTGTTTAATTTATATATGACTTTTCAGATGGAGATTTGGCATTGCAAGGGAGTCTGGGAAGTTTATCTCTGAGTGATTTGACCCCCCATGGGGATCTATATAGAGAACGTTTTACAACACGGGGTGGAGAGGCTCTCGTCTATAACATTTACAAGTATATTCTCATTACATAATTGATTTCATGTTTATTGCGTGTAGTTACACATTTTGTCTTCCCATGATTTAGCATTGACCCTGCTTCTATCTTCAGGTATGGAGAAACTGACTTCTTCTTGCAGCGAGAATATGATATGAAGGTGTCTCTACAGATGGCCTCAGTACAGTA[T/A]GTCCATACGCAGCGCTTCCAGGCTGAGGTAGTGGCCTTTATCCAACACTTCACCCAGCTACAGGATGTCCTGGGCAGGCAGAGAGCAGCCGTTGAGGGTCAGGCGGTAAGTGGGCCGTTTTTATTCAGTTTGTTCAGTAGTAACCTTTGGACAGAATGAGAGATAATGTTTACATAGCCCATCCATGTGTGCTTTTGTATAACCTAGTCTAGTGCAAATGATGCATGTATCCCAGGGAAAACAAATCAGCTATTGCTGCTCAGATAACTGCTTGCCATTGGGATGATCAGCTGGCTGCCCTCAATCCTTCTCTGCAGAGACATGATAGAGTTATAGAAGTAGTTGTCAACACTCATTTCTTTCAAACTGGAGACACTGGTGATGAGACTGGACACTGAGCTGTCTGTCCTGCCTTTAATCTCCTCCTAAATACCACAAGCGGAGAATCAGCAATTGCCCACTGTCGTGTCTCACTGTCAGACTCTCTTTTTTCTGCTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37691
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 |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 2158 | 4361 | 26 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Nonsense | 5 | 2233 | 1 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22042934)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21822241 |
GRCz11 | 23 | 21748792 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTTACCCAGAGAAATTTAATTTATATGTGTTACAGAAGACCATGTGTG[T/A]CTGCTGGACTGTATAGCACTTGACCTTCAAGAGATGGACATTTTTGCTGC
Long Flanking Sequence:
TTTTCAGAATCAGTATTTCAGCTGCGGTGCACACACTTAACTCTTACTTTGGTTGATATTTATATTTTTAAAATGTAAATATTTTTAAGATGCTAAAGTTTTCTGATTTTCTGAAAATGCTGATTGTCTCTACTGGTTCTGTAATGGATGAATGTGTTAGATTAATTTTTGGGTTTCTCTTTACTTGATTAATAATATGAATCATTCTTGAAGGATCGAGTGAAGGATGTCCATTTCACTTCTGATGCTGGGAAGACTAGTCAAAAAAGGCCTACAAGTTTCAGCACATCTTCTGGATTTATGCTGGGCAAACCTCAGCCCAGTCTCGGATGCATACCAGAAGGAGATGTTCTAGGTCTAGGTTAGCAACCAAATTGCTTCATTACTGGGGAAAAATGCTAAATGAAATTTTATTAGTTGTCATTTTATATTCCCAAGCTGGGTTTGTATCATTTACCCAGAGAAATTTAATTTATATGTGTTACAGAAGACCATGTGTG[T/A]CTGCTGGACTGTATAGCACTTGACCTTCAAGAGATGGACATTTTTGCTGCAGAGCGGTTGCCCTGTGAGCCCTGGGACAGTGCTGGAAAGCATCTAGAAACAGATTTGGTATTCCCATCCTACTCAGTGCGTAGAAGTGGGGAGAGCCTGTTAAAGGAGCGCTGCCATCTGAAGCTGAAAGTGGAGCGCAACCTGGACAAGTCAGTCCATTGTACAAATTTAGTCTTCTGTTTCCTGTCCGTTCCAAAAATACTCCCATTTTGTAATTAAATTATCGTGTATTTCATTTGTGCCTCAGGGAATTAAGTCATGCTGTCCCAGACATGTCCATTCACGGCAGCCTGTCTTCTGTCCACTGCTCGTTGGACCTGAAGAGGTATCAGATGATCCGTGGACTCTTGGAGCACAATCTGGGAGAGCCTGTGGAGGAGTTTCTCAGACCTTATAATCTTCAGGACCCCAGCTCATATGTAAGCTTGTTACCACAGCTAGTGGTGGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa551
Status:
F2 line generated
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046613 | Essential Splice Site | 2321 | 4361 | 28 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 168 | 2233 | 3 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22040491)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21819798 |
GRCz11 | 23 | 21746349 |
KASP Assay ID:
554-0461.1 (used for ordering genotyping assays)
KASP Sequence:
AGTTACTGGACAACCATAAATCCACAGGTCATAACTGCTCCTTGGCAAGG[T/C]ACATCGTTCATTCAGAATTCTTTATTTTCCTGCACTTTTTCATAGACTAA
Long Flanking Sequence:
AACAGTTATCTAGCAGTTATTAACTGTATGGAACAGTAATATACAAAAAAAACTGCACTTAATGTCCTAAATATTACACTCCTGAAATATATTATGGAGAATGGCTTGTTTGTTTCTCAATCAAATTCAGTAATTTATTCCCCTGTGGCTTCCTGTTCCTATCTGTAATGAAGACAAAACTGTCTTATTAGTTTCTGGCTTTTCTAGTTTCTCAAATTCAGTAATTAGTTCTACCTCCGTTGCTTCCTGATTTCTATCTGTAATGAAGACGGAAAGCAGAGAAAATACAATTATTATTATTTTATATTAATTTTTGTAAGATGAAGTAATGTGCGGTCTTAGCAGGACTGCCATAATGTATTAATGTAACTGTCATCTTGCAGACCGTTTTGAGTGGTGATGTGTTCACATCCCTGTCTCTTCTGGTGGACATGAAGGACGTCAGTCTCGAGTTACTGGACAACCATAAATCCACAGGTCATAACTGCTCCTTGGCAAGG[T/C]ACATCGTTCATTCAGAATTCTTTATTTTCCTGCACTTTTTCATAGACTAATGATATATCTGACATACTTAACCTTTCATTCCAAATAGGTTTGACTTTATGAAATCAAAGCTCCTGTTTGAGAGTTTCTCTAATGGTTCAAAGTCTGTGAACCTGGTCTCCCATTCACTCCTGGCCCACGACACTCGACTAACTGGCAGCAGTGCCCCTACAGAAGGGAAGCACAATGTGTTTGATTGCATTCTGCAGCCATCCAGGACTGGCACCAACCGAGCCTCGCTGCAGCTAGAGCTACATTACAGGTCAGGACTCCTTACCGAAACCACGTTTAACTGCATATGAGCAGTAAATGTATGCTATATTCTGTATTTTGCCTGTTTCACAGATCAACACGGGACTCTTCATGCTTCACAGTGGTTTTAAACAATCTGCGAGTGTTCCTCATTTTTGATTGGCTACAGCTGGTCCAGGACTTTCTGCACATGCCTGTGGAAAAAGGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43971
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046613 | Essential Splice Site | 2768 | 4361 | 36 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 615 | 2233 | 11 | 44 |
ENSDART00000046613 | Essential Splice Site | 2768 | 4361 | 36 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 615 | 2233 | 11 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22037282)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21816589 |
GRCz11 | 23 | 21743140 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGCTAGTTTCACATTGTCTGGAGATTATTACAACAGGGAACTCTCAGG[T/C]GAGATCTTGGTATAGCTGTCATCCTGAATGTCAGTTAGCCAGTCCCTTCT
Long Flanking Sequence:
TTCAGGAAGGAAGACTGCAGACGGGCACTTATTCACTGTAGAGGTATTGCATTAGTCTAGTAATATTGCAAAACTCACACTTTTGAATCAGAGGATTGCGTGCTTCATTTGTCTATGTACATATGCGATATATTTCAGGTCAGTTGGATCAGGCTGCCACATGGTTATGGGAGAATGCAGAGAGCATGTCGGGCAGAAGCCGAACCAACTCAGGCTCCAGCAGCCACTCTGCTCCTCCTCTGTCTGGAGTAGAAGTGAAGGCCGAGAATGTGTGTATCTGTTTTATCGATGACTGTCTGGACTGTGACGTCCCTCTGGCAGAGATCACCTTCTCACGTGAGGATGACAGCATACTGTTATACTTTGTATTTCTAGCTGGCATTTCTGTAGCAGGTTTTCTCCTCCACAGGTCTTTATGTTCTCCAGAGGATTGGCTCTATGCAGGAAGGCAAGGCTAGTTTCACATTGTCTGGAGATTATTACAACAGGGAACTCTCAGG[T/C]GAGATCTTGGTATAGCTGTCATCCTGAATGTCAGTTAGCCAGTCCCTTCTACAATTCAAATAACATCCTGCTGATTCAAAGGCATGTTCTACTTTGTGGGCTGTTTTGTGATGTTGTGTTTGAGTTTAAGCTTATGGTCATTTTGATACGGCACCAGAAATCTCGGATAAAAATGACAATTATTTCAGGAAAATTGAGATGCACTAATTTTTCTGTCTTGCAGTTTGACAAACATGTAAAAGCAGTTGTGAAGAGCAGTTTTTTCCAGCTTAGATTAATGGCAAAAGTTAAACCGTTTCTTTCTAAAAAAAGATTTAGAAACTGTAACTCATGCTTTAATTTCCTCTTGGTTAGACTACTGCAACTCTTTGTATATTGGTCTACCCCAGTCAACACTCTCTCGGCTACAGTTGGTCCAAAATGCAGTCGCCAGATTAATAACAGGAACTAAGAAAAGAGATCATATCTCCCCTGTCCTCGCCTCATTGCACTGGCTACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31088
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046613 | Essential Splice Site | 2768 | 4361 | 36 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 615 | 2233 | 11 | 44 |
ENSDART00000046613 | Essential Splice Site | 2768 | 4361 | 36 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 615 | 2233 | 11 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22037282)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21816589 |
GRCz11 | 23 | 21743140 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGCTAGTTTCACATTGTCTGGAGATTATTACAACAGGGAACTCTCAGG[T/C]GAGATCTTGGTATAGCTGTCATCCTGAATGTCAGTTAGCCAGTCCCTTCT
Long Flanking Sequence:
TTCAGGAAGGAAGACTGCAGACGGGCACTTATTCACTGTAGAGGTATTGCATTAGTCTAGTAATATTGCAAAACTCACACTTTTGAATCAGAGGATTGCGTGCTTCATTTGTCTATGTACATATGCGATATATTTCAGGTCAGTTGGATCAGGCTGCCACATGGTTATGGGAGAATGCAGAGAGCATGTCGGGCAGAAGCCGAACCAACTCAGGCTCCAGCAGCCACTCTGCTCCTCCTCTGTCTGGAGTAGAAGTGAAGGCCGAGAATGTGTGTATCTGTTTTATCGATGACTGTCTGGACTGTGACGTCCCTCTGGCAGAGATCACCTTCTCACGTGAGGATGACAGCATACTGTTATACTTTGTATTTCTAGCTGGCATTTCTGTAGCAGGTTTTCTCCTCCACAGGTCTTTATGTTCTCCAGAGGATTGGCTCTATGCAGGAAGGCAAGGCTAGTTTCACATTGTCTGGAGATTATTACAACAGGGAACTCTCAGG[T/C]GAGATCTTGGTATAGCTGTCATCCTGAATGTCAGTTAGCCAGTCCCTTCTACAATTCAAATAACATCCTGCTGATTCAAAGGCATGTTCTACTTTGTGGGCTGTTTTGTGATGTTGTGTTTGAGTTTAAGCTTATGGTCATTTTGATACGGCACCAGAAATCTCGGATAAAAATGACAATTATTTCAGGAAAATTGAGATGCACTAATTTTTCTGTCTTGCAGTTTGACAAACATGTAAAAGCAGTTGTGAAGAGCAGTTTTTTCCAGCTTAGATTAATGGCAAAAGTTAAACCGTTTCTTTCTAAAAAAAGATTTAGAAACTGTAACTCATGCTTTAATTTCCTCTTGGTTAGACTACTGCAACTCTTTGTATATTGGTCTACCCCAGTCAACACTCTCTCGGCTACAGTTGGTCCAAAATGCAGTCGCCAGATTAATAACAGGAACTAAGAAAAGAGATCATATCTCCCCTGTCCTCGCCTCATTGCACTGGCTACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24315
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000046613 | Essential Splice Site | 3317 | 4361 | 47 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Essential Splice Site | 1189 | 2233 | 23 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22026609)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21805916 |
GRCz11 | 23 | 21732467 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTGAGCCCATTGCTCTTCTGCTACACTGACAAAGAGCAGCCCAATATG[T/C]GAGTTCAAAAGAAAAGGCTCTCATCAGATGCTTTTGAAAATCTAACTTAA
Long Flanking Sequence:
TTTATACACTGATTAAAGGTTTAATTTGAATTTAGGACTTAAAGGGATAGTTAACCCAAAAAATGTAATTAACTCATCCTCAAGTGGTTTAAAACCTTTGTGTTTCTTTCTTCTGTCAATCACAAAAGAAGTTATTTTGAAGAAAGCTGAAAACCTGTAACTATTGACCTGCATATTATGAAAAACAAATACTATAGAAGTCAATGGTTACAGGTTTCCAACATTTTTCAAAATATCTTAGTTTGTGATTAACTTAAGAAAGAAACTAATAAAGGTTTGAAACAAACAAAGGGTGAGTAAATGATGACAGAACTTTCTCTTTAACCTGAACACACAAACACATCTGTAATATTTACATTATTGTGTGTCCAGGGCTGCCTCTGATTTTCCGTCAGGACAATGGAAAAACGGATGCCGCTGGACAGTTTGAAGAGCACGAGTTAGCCAGGAGTTTGAGCCCATTGCTCTTCTGCTACACTGACAAAGAGCAGCCCAATATG[T/C]GAGTTCAAAAGAAAAGGCTCTCATCAGATGCTTTTGAAAATCTAACTTAATGAGCCTGCATAATTTGCACCACCACAGTCATTAATTTATTACTCAACACAGCAGAAGTGTAATTTACCTACATAGCTACTGGAGTTCTCTAAAGTCTTGTCCTCTTTGATCAGGTGCACCATGCGGATCGGGAAAGGAATCCACCCAGATGGTGTTCCAGGATGGTGTCAGGGTTTCTCTCTGGATGGAGGGAGTGGAGTGAGAGCAGTCAAAGTCATCCAGCATGGCAACAGACCTGGACTTATCTATAATATTGGTAATAAGGAATGCATATTCTCTTTTAAGAAACCTTTCCCTTGCATTGTGGGATCTGCTAATTCAGACATCGTTCTGAAGATTACTAATGGATTGAAATGTCTCATTGTAGGAATAAATGTGCGAAAAGGGAAAGGGCGCTATCGTGACACACATATTGTGACTTTTGCTCCACGATACCTGCTTGACAATCG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24314
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 |
---|---|---|---|---|---|
ENSDART00000046613 | Nonsense | 3909 | 4361 | 60 | 68 |
ENSDART00000145408 | None | None | 2099 | None | 25 |
ENSDART00000148128 | Nonsense | 1781 | 2233 | 36 | 44 |
Genomic Location (Zv9):
Chromosome 23 (position 22016470)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 21795777 |
GRCz11 | 23 | 21722328 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGATCATAGATGTTGCACTCTGATTCACAGCATCTGATGGTCACAGCT[C/T]GACGCTACACTGTAATCATAGAGGAGAAGCTCTTAATGAAACTGCTGATA
Long Flanking Sequence:
GATTAGGGATAGTTCAAGATGGTTTACCGAACTGTGATGTTGACTAGTTTTTCTAGATTTGTCAATGTACTTGGGACATCAAAGTTTAATCCAATAGTCAGGGATCAGATCTGGCAAAGATCCCTTTTTAGCTCATTCGTTTTCTTTTCCAACAAAATTTTCAGTCTCAAGCTAATGCATTTCTGACAGATTTGTTTCTTTTCTCTCGTCTTTCCCAGGTGGACAACCAGCTTCTGGGCACCACTCACCCTGTGCTACTATGTGTGACTCCAGGCTCCTCTGAAAGTACTGCATTGGATTCAGGTCCTGCTCTGCAGGTCAACGCTGTGAAAGTGCCCAGCAGGCTTATGCTCACAGACCTCTTTAAGGTGAAACTGATCAACCTACAGGTTCTCTTTCTGACCAGAAATGCTTCAGGCCTGTTTGTACGTGTGCCTTTAGCTACAAAAGCTTGATCATAGATGTTGCACTCTGATTCACAGCATCTGATGGTCACAGCT[C/T]GACGCTACACTGTAATCATAGAGGAGAAGCTCTTAATGAAACTGCTGATATTCTTTGGCTACGGTCAGACAGAGGGAGGTGTGTAATGTTTATCCCTCTAGAGTGCAGTATAGAAAATGACACTATTATCTCCTGCTGTAAAGTGCATGCTTTTGTGTTACAGAGATGGAGAAGCTGGATGAGAACATCTATGAGAAAGCCAGTGAAGATCCAGGAACACCAAAGCGCTATTATTTTGAGAACTTGAAAATCAGTCTCCCTCAGGTCAAGCTTAGTGTGTTCACCTCTCACAAGCTGCCCCATGACCTTAAGGTAAAAGAGCCACTGTAGAATCGACCACAGTATTTTCAAGCTTGCATTATGTTATGATTTGGCTACTCGCTGTATAGTCAAGTGTTGTTTTGCACAGGCCTTGAAGGGAACCCTTGGCTTCCCACTCATTCGGTTTGAAGATGCAATCATCAACATGTACCCCTACACTCGAGTTCATCCCTATGAGA
Associated Phenotype:
Not determined