ZMP
LOC556748
Ensembl ID:
Human Orthologue:
PPIP5K1
Human Description:
diphosphoinositol pentakisphosphate kinase 1 [Source:HGNC Symbol;Acc:29023]
Mouse Orthologue:
Ppip5k1
Mouse Description:
diphosphoinositol pentakisphosphate kinase 1 Gene [Source:MGI Symbol;Acc:MGI:2443281]
Alleles
There are 13 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa30893 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa41025 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa41026 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa21076 | Nonsense | Available for shipment | Available now |
sa18894 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa10406 | Essential Splice Site | Available for shipment | Available now |
sa18089 | Essential Splice Site | Available for shipment | Available now |
sa21077 | Essential Splice Site | Available for shipment | Available now |
sa21078 | Essential Splice Site | Available for shipment | Available now |
sa34185 | Nonsense | Available for shipment | Available now |
sa16976 | Nonsense | Available for shipment | Available now |
sa2349 | Nonsense | Available for shipment | Available now |
sa8681 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30893
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 146 | 1345 | 3 | 29 |
ENSDART00000111444 | Essential Splice Site | 146 | 1345 | 3 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54229225)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52499075 |
GRCz11 | 7 | 52774145 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCCACTGCTTATCAATGATCTTAACATGCAGTATTACATACAGGATAGG[T/C]ATTACCATATTTTTCATTAATCGCAGTTTTGCAAATGATCTCTCATGTTT
Long Flanking Sequence:
ATATATTCTTTTGTGTTTGACAGAATAATGAAACTCAAATAGGTTTTGAACAAGTGAAGGGTGAGTAAATAATGAAAATTGAGAATTTTGGGTGGATAATCCTTTTAACTAATCTAAAGAGATACAATAAAGATGTGACCACGTTGGTAAGGTTTCTGTCTGCCGTTGATAGTGTAGTGAGGTATGACGCACAGCACATTTATTTTCAAACAAAGCAGCTTTCTTTCAAACAATGTTACAAATTTAAGTGGCCGATTTGCCCGTGTAGACTCTTTTTAAAATGACTGGATTTCACCCATTTAAAAAAAAGAGAAATAAGTCTTAAGCCTCTTCTGTGATATATCAATGTAACTGATAAGATGTCTGTGTGTTGCATCTGTGTGACAGTAATGTTTTCTCTTGAACTAGGTTTCCCCTTGGATAAAGCAGTGAGTTATGCAAAGCTCCGTAACCCACTGCTTATCAATGATCTTAACATGCAGTATTACATACAGGATAGG[T/C]ATTACCATATTTTTCATTAATCGCAGTTTTGCAAATGATCTCTCATGTTTGCACACATTTTTGAATTGTAGCTGATGCCTGAATAAGGGATTTGTCTGTTGTTTTCATATTTTAGGAGAGAGGTTTATCGTATCCTGCAGGAGGAGGGGATTGATCTACCACGCTACGCAGTGTTAAACCGTGACCCTGACAAGCCTGATGGTCAGTCAAAGCTTATTTTAAACAAGCATTTGAAAGCTTGGAATATCTAAAGTGTTTTTCTTGATTTTATTTTGAGGAGTTTTAGTTGAAAAGTTTTAGGAGATTAGTCAAAGTAATCGAAATCTGCGTTCAGAACCTATTATTGATCACATTTTTACAGGACAATTTTTTCATTTACTTTCCCTACGTGTCATGTGACCCTACTTTGTTAAAGGCTGTGGCTGATTTCTACTTCTGCGGCCACTTTGCAGCCACATCTTATCTCTGGTCAAGTAGGACAATGGACCCATTTTTGAGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41025
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 146 | 1345 | 3 | 29 |
ENSDART00000111444 | Essential Splice Site | 146 | 1345 | 3 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54229225)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52499075 |
GRCz11 | 7 | 52774145 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCCACTGCTTATCAATGATCTTAACATGCAGTATTACATACAGGATAGG[T/C]ATTACCATATTTTTCATTAATCGCAGTTTTGCAAATGATCTCTCATGTTT
Long Flanking Sequence:
ATATATTCTTTTGTGTTTGACAGAATAATGAAACTCAAATAGGTTTTGAACAAGTGAAGGGTGAGTAAATAATGAAAATTGAGAATTTTGGGTGGATAATCCTTTTAACTAATCTAAAGAGATACAATAAAGATGTGACCACGTTGGTAAGGTTTCTGTCTGCCGTTGATAGTGTAGTGAGGTATGACGCACAGCACATTTATTTTCAAACAAAGCAGCTTTCTTTCAAACAATGTTACAAATTTAAGTGGCCGATTTGCCCGTGTAGACTCTTTTTAAAATGACTGGATTTCACCCATTTAAAAAAAAGAGAAATAAGTCTTAAGCCTCTTCTGTGATATATCAATGTAACTGATAAGATGTCTGTGTGTTGCATCTGTGTGACAGTAATGTTTTCTCTTGAACTAGGTTTCCCCTTGGATAAAGCAGTGAGTTATGCAAAGCTCCGTAACCCACTGCTTATCAATGATCTTAACATGCAGTATTACATACAGGATAGG[T/C]ATTACCATATTTTTCATTAATCGCAGTTTTGCAAATGATCTCTCATGTTTGCACACATTTTTGAATTGTAGCTGATGCCTGAATAAGGGATTTGTCTGTTGTTTTCATATTTTAGGAGAGAGGTTTATCGTATCCTGCAGGAGGAGGGGATTGATCTACCACGCTACGCAGTGTTAAACCGTGACCCTGACAAGCCTGATGGTCAGTCAAAGCTTATTTTAAACAAGCATTTGAAAGCTTGGAATATCTAAAGTGTTTTTCTTGATTTTATTTTGAGGAGTTTTAGTTGAAAAGTTTTAGGAGATTAGTCAAAGTAATCGAAATCTGCGTTCAGAACCTATTATTGATCACATTTTTACAGGACAATTTTTTCATTTACTTTCCCTACGTGTCATGTGACCCTACTTTGTTAAAGGCTGTGGCTGATTTCTACTTCTGCGGCCACTTTGCAGCCACATCTTATCTCTGGTCAAGTAGGACAATGGACCCATTTTTGAGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41026
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 163 | 1345 | 4 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54229392)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52499242 |
GRCz11 | 7 | 52774312 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGAGGTTTATCGTATCCTGCAGGAGGAGGGGATTGATCTACCACGCTA[C/A]GCAGTGTTAAACCGTGACCCTGACAAGCCTGATGGTCAGTCAAAGCTTAT
Long Flanking Sequence:
GATAGTGTAGTGAGGTATGACGCACAGCACATTTATTTTCAAACAAAGCAGCTTTCTTTCAAACAATGTTACAAATTTAAGTGGCCGATTTGCCCGTGTAGACTCTTTTTAAAATGACTGGATTTCACCCATTTAAAAAAAAGAGAAATAAGTCTTAAGCCTCTTCTGTGATATATCAATGTAACTGATAAGATGTCTGTGTGTTGCATCTGTGTGACAGTAATGTTTTCTCTTGAACTAGGTTTCCCCTTGGATAAAGCAGTGAGTTATGCAAAGCTCCGTAACCCACTGCTTATCAATGATCTTAACATGCAGTATTACATACAGGATAGGTATTACCATATTTTTCATTAATCGCAGTTTTGCAAATGATCTCTCATGTTTGCACACATTTTTGAATTGTAGCTGATGCCTGAATAAGGGATTTGTCTGTTGTTTTCATATTTTAGGAGAGAGGTTTATCGTATCCTGCAGGAGGAGGGGATTGATCTACCACGCTA[C/A]GCAGTGTTAAACCGTGACCCTGACAAGCCTGATGGTCAGTCAAAGCTTATTTTAAACAAGCATTTGAAAGCTTGGAATATCTAAAGTGTTTTTCTTGATTTTATTTTGAGGAGTTTTAGTTGAAAAGTTTTAGGAGATTAGTCAAAGTAATCGAAATCTGCGTTCAGAACCTATTATTGATCACATTTTTACAGGACAATTTTTTCATTTACTTTCCCTACGTGTCATGTGACCCTACTTTGTTAAAGGCTGTGGCTGATTTCTACTTCTGCGGCCACTTTGCAGCCACATCTTATCTCTGGTCAAGTAGGACAATGGACCCATTTTTGAGCCTTACTTTGCACTACATTGATGATTATTGAAAGCTGCCCGAGAGATGCCTTTAGATGGCATATACAACTTGTCAGTGAACTATTAGGGCAAATATATATAAATAAATAAATAAAATAATCCAAATCAAGTAAAGAGCCCTATCATACACCCAGATCAATAATGTGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21076
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 347 | 1345 | 8 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54236034)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52505884 |
GRCz11 | 7 | 52780954 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGATGTCAATGGATTTAGCTTTGTGAAGAATTCCATGAAATACTA[T/A]GACGACTGTGCTAAGATACTGGGGTAAAAGCTAATAATAAAGACCCAAAA
Long Flanking Sequence:
GTTTAGATCTGTGGAATTATTTTTTTGGAACTTTACTCCCTTTTGTTCATCAGATGAAAATATCCTGTTCATTTTTATTAGTTTTTTGCTTTTTTGTGTGTTTGTTTTATCACAGGTGTACACAGTAGGGCCAGATTACGCTCACGCAGAGGCTCGTAAGTCCCCTGCTCTTGATGGAAAAGTGGAGCGGGACAGTGAAGGAAAAGAAATCCGCTACCCGGTCATGCTCACTGCCATGGAGAAGCTTGTGGCTCGTAAAGTTTGTCTGGCATTCAAGGTAAGAGGATCTTACAAAGAAAATAACTGCAGAATGAAAGCTTCAGCCTGAGCTTCAGCTTCAGAGACATTTTTAGGTTAAGATTTTGATGTGTATTTTATTCTCAAAAACTCTTTGTACTGCAGCAAACAGTGTGTGGATTCGACCTCCTCCGAGCCAATGGCCACTCATATGTGTGTGATGTCAATGGATTTAGCTTTGTGAAGAATTCCATGAAATACTA[T/A]GACGACTGTGCTAAGATACTGGGGTAAAAGCTAATAATAAAGACCCAAAAGTTTGAAAAGTTTGTCTTTCATATATAACATGCAGATATAACAGAGATTAACTTTTTTTTTTTTTTCAGAAATATTGTAATGAGGGAGCTGGCTCCTCAGTTCCAGATCCCCTGGTCCATACCTACGGAGGCAGAGGACATTCCTATTGTACCCACTACATCAGGAACAATGTACTCATCACATGTTGTTCTCATATGTTGGCTTAAACGTATTAGTTTACATCGTTTATTGATAATATTTAAATTCTGGTGAGCATTCAAAGTGTCCTTGTTGACGCTCTTTATAATTCTGTCCTTTAGGATGGAGCTGCGTTGTGTGATTGCTGTAATCCGGCATGGAGATCGCACACCAAAGCAGAAGATGAAGATGGAAGTGCGAAATGCCATGTGCGTTTTTTTTGCCTGTTTGAAATACTAAATAGGAATGATGGATACATAATTAAAATACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18894
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 355 | 1345 | 8 | 29 |
ENSDART00000111444 | Essential Splice Site | 355 | 1345 | 8 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54236058)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52505908 |
GRCz11 | 7 | 52780978 |
KASP Assay ID:
554-6157.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGTGAAGAATTCCATGAAATACTATGACGACTGTGCTAAGATACTGGG[G/A]TAAAAGCTAATAATAAAGACCCAAAAGTTTGAAAAGTTTGTCTTTCATAT
Long Flanking Sequence:
TTGGAACTTTACTCCCTTTTGTTCATCAGATGAAAATATCCTGTTCATTTTTATTAGTTTTTTGCTTTTTTGTGTGTTTGTTTTATCACAGGTGTACACAGTAGGGCCAGATTACGCTCACGCAGAGGCTCGTAAGTCCCCTGCTCTTGATGGAAAAGTGGAGCGGGACAGTGAAGGAAAAGAAATCCGCTACCCGGTCATGCTCACTGCCATGGAGAAGCTTGTGGCTCGTAAAGTTTGTCTGGCATTCAAGGTAAGAGGATCTTACAAAGAAAATAACTGCAGAATGAAAGCTTCAGCCTGAGCTTCAGCTTCAGAGACATTTTTAGGTTAAGATTTTGATGTGTATTTTATTCTCAAAAACTCTTTGTACTGCAGCAAACAGTGTGTGGATTCGACCTCCTCCGAGCCAATGGCCACTCATATGTGTGTGATGTCAATGGATTTAGCTTTGTGAAGAATTCCATGAAATACTATGACGACTGTGCTAAGATACTGGG[G/A]TAAAAGCTAATAATAAAGACCCAAAAGTTTGAAAAGTTTGTCTTTCATATATAACATGCAGATATAACAGAGATTAACTTTTTTTTTTTTTTCAGAAATATTGTAATGAGGGAGCTGGCTCCTCAGTTCCAGATCCCCTGGTCCATACCTACGGAGGCAGAGGACATTCCTATTGTACCCACTACATCAGGAACAATGTACTCATCACATGTTGTTCTCATATGTTGGCTTAAACGTATTAGTTTACATCGTTTATTGATAATATTTAAATTCTGGTGAGCATTCAAAGTGTCCTTGTTGACGCTCTTTATAATTCTGTCCTTTAGGATGGAGCTGCGTTGTGTGATTGCTGTAATCCGGCATGGAGATCGCACACCAAAGCAGAAGATGAAGATGGAAGTGCGAAATGCCATGTGCGTTTTTTTTGCCTGTTTGAAATACTAAATAGGAATGATGGATACATAATTAAAATACTTTTTCTTTTCTTGCAGGTTTTTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10406
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 355 | 1345 | 8 | 29 |
ENSDART00000111444 | Essential Splice Site | 355 | 1345 | 8 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54236058)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52505908 |
GRCz11 | 7 | 52780978 |
KASP Assay ID:
554-6157.1 (used for ordering genotyping assays)
KASP Sequence:
TTTGTGAAGAATTCCATGAAATACTATGACGACTGTGCTAAGAYACTGGG[G/A]TAAAAGCTAATAATAAAGACCCAAAAGTTTGAAAAGTTTGTCTTTCATAT
Long Flanking Sequence:
TTGGAACTTTACTCCCTTTTGTTCATCAGATGAAAATATCCTGTTCATTTTTATTAGTTTTTTGCTTTTTTGTGTGTTTGTTTTATCACAGGTGTACACAGTAGGGCCAGATTACGCTCACGCAGAGGCTCGTAAGTCCCCTGCTCTTGATGGAAAAGTGGAGCGGGACAGTGAAGGAAAAGAAATCCGCTACCCGGTCATGCTCACTGCCATGGAGAAGCTTGTGGCTCGTAAAGTTTGTCTGGCATTCAAGGTAAGAGGATCTTACAAAGAAAATAACTGCAGAATGAAAGCTTCAGCCTGAGCTTCAGCTTCAGAGACATTTTTAGGTTAAGATTTTGATGTGTATTTTATTCTCAAAAACTCTTTGTACTGCAGCAAACAGTGTGTGGATTCGACCTCCTCCGAGCCAATGGCCACTCATATGTGTGTGATGTCAATGGATTTAGCTTTGTGAAGAATTCCATGAAATACTATGACGACTGTGCTAAGATACTGGG[G/A]TAAAAGCTAATAATAAAGACCCAAAAGTTTGAAAAGTTTGTCTTTCATATATAACATGCAGATATAACAGAGATTAACTTTTTTTTTTTTTTCAGAAATATTGTAATGAGGGAGCTGGCTCCTCAGTTCCAGATCCCCTGGTCCATACCTACGGAGGCAGAGGACATTCCTATTGTACCCACTACATCAGGAACAATGTACTCATCACATGTTGTTCTCATATGTTGGCTTAAACGTATTAGTTTACATCGTTTATTGATAATATTTAAATTCTGGTGAGCATTCAAAGTGTCCTTGTTGACGCTCTTTATAATTCTGTCCTTTAGGATGGAGCTGCGTTGTGTGATTGCTGTAATCCGGCATGGAGATCGCACACCAAAGCAGAAGATGAAGATGGAAGTGCGAAATGCCATGTGCGTTTTTTTTGCCTGTTTGAAATACTAAATAGGAATGATGGATACATAATTAAAATACTTTTTCTTTTCTTGCAGGTTTTTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18089
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 508 | 1345 | 13 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54240469)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52510319 |
GRCz11 | 7 | 52785389 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTAACATACCTTCCTCATGGACAACCCAAAACATCCAGTGAGGARGAAG[G/T]TATGAGGATTGTTGATAGGAAAATTTGTTGGGTTRAAATCGTGTTGTGCA
Long Flanking Sequence:
TGGAACTAAACTGTGCAGAGCTGCGGGCCTTTTGGAACTGAGTTTGACACCTCCCTGCTGAAAAATCCAGCTTAAACCAGCCTAGGCTGGTTGGCTGGTTTTAGCTGGTTGACCAGCCTGGTTTTAGAGGGGTTTTGGCCATTTCCAGGCTGGTTTCTAGCCATTTCCTGTCTGGTCTTAGCTGGTCAGGCTGGAAAATGACCAGCTAAATCCAGCTAAAACCAGCTTGACCAGCCTGGTTTAAGCTGGACATAGCTGGTTTTAGCTGGTCATCTTCCCGCCTGGCCGACCAGCTAAAACCAGCCAACCAGCCTAGGCTGGTTTAAGCTGGTTTTTTTAGTTGGGCTGTGGGATACACCATAATCAAACTATTATCTCTGTATATTTATATTTGATTTATTAAATTTTTTTCAGGTATGGCCATTTCTCTGGAATCAATAGGAAAGTGCAGCTAACATACCTTCCTCATGGACAACCCAAAACATCCAGTGAGGAAGAAG[G/T]TATGAGGATTGTTGATAGGAAAATTTGTTGGGTTGAAATCGTGTTGTGCATGATGGTACTGCTGTGTGTTCAGATACCCGTAAGGAGGGCCCCTCCATACTGCTGGTGCTGAAGTGGGGGGGAGAACTGACTCCAGCCGGCAGAGTACAGGCTGAAGAACTCGGCAGGGCTTTTCGCTGCATGTATCCTGGAGGTCAAGGTACAGTATGGTCAATTACACAGACATTTATTACACTTGTGCCTTTTTCACATCACACTTTAGATGATTTTTTTTTGTCAAAGTCTGCATGAGTCCACAATTTTTGATACGGTACTTAACATTTAAAGTGAATCAAAAAAGTATTTCAAATTAGCCTACGACAATATAAAATCTTTGGATCCACTTCAAATGTTGACTACTATATAATTTATTCTTTTTATTTATTATAAAAGAAACTTGCTATGTGTTCTGTCTTCGACTAACTGGGACTTGACACAGCACTCCTCATTTGTTAACCTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21077
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 550 | 1345 | 14 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54240669)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52510519 |
GRCz11 | 7 | 52785589 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGAAGAACTCGGCAGGGCTTTTCGCTGCATGTATCCTGGAGGTCAAG[G/A]TACAGTATGGTCAATTACACAGACATTTATTACACTTGTGCCTTTTTCAC
Long Flanking Sequence:
ACCAGCTAAATCCAGCTAAAACCAGCTTGACCAGCCTGGTTTAAGCTGGACATAGCTGGTTTTAGCTGGTCATCTTCCCGCCTGGCCGACCAGCTAAAACCAGCCAACCAGCCTAGGCTGGTTTAAGCTGGTTTTTTTAGTTGGGCTGTGGGATACACCATAATCAAACTATTATCTCTGTATATTTATATTTGATTTATTAAATTTTTTTCAGGTATGGCCATTTCTCTGGAATCAATAGGAAAGTGCAGCTAACATACCTTCCTCATGGACAACCCAAAACATCCAGTGAGGAAGAAGGTATGAGGATTGTTGATAGGAAAATTTGTTGGGTTGAAATCGTGTTGTGCATGATGGTACTGCTGTGTGTTCAGATACCCGTAAGGAGGGCCCCTCCATACTGCTGGTGCTGAAGTGGGGGGGAGAACTGACTCCAGCCGGCAGAGTACAGGCTGAAGAACTCGGCAGGGCTTTTCGCTGCATGTATCCTGGAGGTCAAG[G/A]TACAGTATGGTCAATTACACAGACATTTATTACACTTGTGCCTTTTTCACATCACACTTTAGATGATTTTTTTTTGTCAAAGTCTGCATGAGTCCACAATTTTTGATACGGTACTTAACATTTAAAGTGAATCAAAAAAGTATTTCAAATTAGCCTACGACAATATAAAATCTTTGGATCCACTTCAAATGTTGACTACTATATAATTTATTCTTTTTATTTATTATAAAAGAAACTTGCTATGTGTTCTGTCTTCGACTAACTGGGACTTGACACAGCACTCCTCATTTGTTAACCTGACATTATTAAATACAGTTTTCAGGGTCCAAACCGCTGCACATTTGAAAGTTGAAGTCAGAATTATTAGCCCCCCTTTGAATTCTTTTGTCTTTTAAATATTTCCTAAATGATGTGTAACAGAGCGAGGGAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGCAAGAAGTCTTATTTGTTTTATTTCTGAAACCATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21078
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Essential Splice Site | 652 | 1345 | 16 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54243026)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52512876 |
GRCz11 | 7 | 52787946 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAGATCATGCAGAAAGATAAAGTCTTCACTGAAGAAGACTATGACAGG[G/A]TACATTTGGAGTGTCTTTTGAACTGTATTTCAGCCCTCCGCTGACTTGAT
Long Flanking Sequence:
TAAGATTAGAGTTGAAGCTGAATCCTACAAGACTGTGTTTCTAGGAACAGGGTTGAATTTTATTAATCTGTTCTGTGAATGTTATTTTCTTGTCCACTTACAGGCGATTACGCTGGCTTTCCAGGCTGCGGTTTGCTCAGGCTACATAGCACCTACCGACATGACCTCAAGATCTACGCCTCTGATGAAGGCAGGGTGCAAATGACTGCTGCTGCCTTTGCAAAGGTCCTCAGCCACAACAAAAACAGGTTATCGAAGGTTTAAAGGTATAAAGTTATCAAAGGTTGTTAAACTGCCGTTGGTTGTTTGCCTGGCAGGGTCTCTTAGCGTTGGAAGGAGAACTGACACCCATCTTGGTCCAGATGGTGAAAAGTGCAAATATGAACGGTCTGCTGGATAACGATATTGAATCGCTCAGCGGCTGTCAGCAGAGGGTTAAAGCCAGACTTCATGAGATCATGCAGAAAGATAAAGTCTTCACTGAAGAAGACTATGACAGG[G/A]TACATTTGGAGTGTCTTTTGAACTGTATTTCAGCCCTCCGCTGACTTGATATGAAAGGCGCATCTGTGTCCACTTCATCTCTTGTGTTTTTTCAGCTGGCCCCAACATGCAGCAGTTCTCTGGTGAACTCTATGAGGGCTGTCGAGAATCCAGTGTGTATATGTGATCAAGTCTACACCCTCGTCCAGAGCCTCACTTCACAGATCCGCAAAAGACTCGAAGACCCCAAATCAGCAGGTGATTGTTCTGTGCTCAATTAAAAACAGTATTTATGCAAAAAATAATTTCATTAATTACTCACCTTTATTTCAGTCCAATCCCCTGAGAATTTCATTCATCTTTAAAACACAAATGAACATATTTTTGATGAAATCTGAGAATTCTCTGGCCCTCCATAGACAGCTCACTTTTCTGGACTTTGAACGTCCTGGGACAGTTGCTGTCTATGAGTAATGAGAGAAATCTCAAATTACACCTAAAATATCTTAACTTGCTATCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34185
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 985 | 1345 | 24 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54248367)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52518217 |
GRCz11 | 7 | 52793287 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGTGCCCCATTTGTGTGCACACAGGTCTTGTCAGAAAGCTCTTCCTCT[A/T]AAGGAGGCAGCTATCGCCTCTTCCCCTCCTGCTCACGTCAGTCTCCAGAG
Long Flanking Sequence:
CGCTTCCATGTGGAACTGCATTTCAGCCCTGGGGTTAAAGTGTCTGAGGAAGAGAGCGCTCCGATGGGCTTCGGCTTCCGACCAGCCTCTGCTGAAGTATACAACCCTTTCCTTTGTCCCATTGGAGAACACATTTTTTTAGCTAATAATAGCAATGCTTGCTTGCTGAAGATTCCATGTCTGTGTTTGTGTGTCTTGATGTAGAATGACCAGAAGCAAACAGACCCTGGAAGTTTGGAGAACCTCTCACGGGATGAGCCCGACCGTGCATTGCCCCTTTCAGAGGCCATCAGCACCCAGAGGAAATCCCCTTTGATCCGCAACCGCAAGACTGGCTCTATGGAGGTATCAAAGACAGCATTACACCTACTCTACTTTCTAAAATATGACTGTGAATCTCAGTGGTGTCAAATTGACAGAATCAGGCTGGGTTTTATGTGGCAAAATTCAAAAGTGCCCCATTTGTGTGCACACAGGTCTTGTCAGAAAGCTCTTCCTCT[A/T]AAGGAGGCAGCTATCGCCTCTTCCCCTCCTGCTCACGTCAGTCTCCAGAGATGAAGCAGAGCGGATTAGGTTGGTATCGTGTGTCTGTCCCTCATTCAACCTCAACAACTGCTGTTTATCTCTTCTCCCTGACAGGAAATCACCCTCTGCATCCAAGGCAACACTATATTGAGTCTTATTTCGGGTGTGCCAACCATTAGCTGGGGGCTTTCATTGACATAAAGGAAATTAGTGAATACACAGTGCGTATTGGACACAGTGGAGTTTAGTGCATGTGATGCTGTTCATTTTTAGATCTATTAAAGGGATCATTGTGCGTTTTGCTTTATGCAAACAAATGCTGTGATTTCTGATATGCCATGGTGGTGAAGAGTTCTGAAAGTCCTGCTCAAGTAAAAGTAAAATTACTTGCCATAAAATTTAGTGTGAGTAAAAAGTATCTGTTAAAAATATGAGTAGAATGTTGCTCTTCTAAAGTACTCAAGAATAGTGTTCGTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16976
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 1191 | 1345 | 29 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54275086)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52544936 |
GRCz11 | 7 | 52820006 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGACACCTCTCCACGCTTCAGCTTCAGTGAGAAGATCACCCTAACGCCT[C/T]AGAGCAGTGAAGAGATCCACCAGATYCCTCAAAACAACAACTGMCACACT
Long Flanking Sequence:
TTTTGGAAAAAGGCTGTAACATCAAATATGTGGAAAAAGTAAAGCGCTATCAATACTTTTCAGATGCACTGTATAATAACTTTAACTGTTAAAAGCTATTAATTAGTTAATTAGTTAAAGTTATTAATAACTAATTTTAAGTTACAGTAACTAATAACCTTAACTTTTCTGAATTTGATTGTAATGCAAGAATGTGCACCTTTTCTATTGCTGCTTTGAAACAACAGTTCTTGTAAAAAGTGCAAATAAACTTGAATGAATGAATACAAAAAAATAGTGAGAACACAGGAGTGAGACTGGGGAAGTTCTCTTGATGACACAAATGGAAAAACTCAAACAAAAGTAGTGTGTTTTGCAGCCAAATGATGGTTTGTGTGTGTTTTGTTTGTACAGACAGCAGTGGTCCTTCCAGCACAGTGTCCAGCGCCGGCCCCTCGTCTCCCACCACGGCTGACACCTCTCCACGCTTCAGCTTCAGTGAGAAGATCACCCTAACGCCT[C/T]AGAGCAGTGAAGAGATCCACCAGATCCCTCAAAACAACAACTGCCACACTGTGTCTTTGACATCCGAACCCAGCATACCCTCAGAGGACCCGCACAGCTCCATACCCTCTCCCATCATGGAGAGACCCAGTCAGATAACATCAGACGGCACAGACTCTGCAGGCCAGTGTCTGACAGAGAGCCCTTCCTGTGATGAAGGGTCAAGTCCAAACACGGCTGAGCCCAGTCCACCCAGTCCTCTCCCAGAGTCCTTCCGCGGGCTGCCCGGCTCCCTGCCTGTTCTCCTGGAGCTCAGAGAAAGCAGTTCTGAGACCGGGTCCAGCGCCCAGACACCGCTCAGCCCTGAGGAGCCCGATGAGTTCTTTGATACGCAGGAAACGGTTGACGCTTGGAGGGAGAACCCGGCATCCCTGCCCCATCCTGGAACTCCTCTGGAGGTGGGAGCTCCACACGTGCCTGAGCCTTGAAGGAAACAGTGCTCCCTTCACCCCATCCCAGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2349
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 |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 1205 | 1345 | 29 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54275130)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52544980 |
GRCz11 | 7 | 52820050 |
KASP Assay ID:
554-2614.1 (used for ordering genotyping assays)
KASP Sequence:
ACGCCTCAGAGCAGTGAAGAGATCCACCAGATCCCTCAAAACAACAACTG[C/A]CACACTGTGWCTTTGACATCCGAACCCAGCATACCCTCAGASGACCCGCA
Long Flanking Sequence:
CGCTATCAATACTTTTCAGATGCACTGTATAATAACTTTAACTGTTAAAAGCTATTAATTAGTTAATTAGTTAAAGTTATTAATAACTAATTTTAAGTTACAGTAACTAATAACCTTAACTTTTCTGAATTTGATTGTAATGCAAGAATGTGCACCTTTTCTATTGCTGCTTTGAAACAACAGTTCTTGTAAAAAGTGCAAATAAACTTGAATGAATGAATACAAAAAAATAGTGAGAACACAGGAGTGAGACTGGGGAAGTTCTCTTGATGACACAAATGGAAAAACTCAAACAAAAGTAGTGTGTTTTGCAGCCAAATGATGGTTTGTGTGTGTTTTGTTTGTACAGACAGCAGTGGTCCTTCCAGCACAGTGTCCAGCGCCGGCCCCTCGTCTCCCACCACGGCTGACACCTCTCCACGCTTCAGCTTCAGTGAGAAGATCACCCTAACGCCTCAGAGCAGTGAAGAGATCCACCAGATCCCTCAAAACAACAACTG[C/A]CACACTGTGTCTTTGACATCCGAACCCAGCATACCCTCAGAGGACCCGCACAGCTCCATACCCTCTCCCATCATGGAGAGACCCAGTCAGATAACATCAGACGGCACAGACTCTGCAGGCCAGTGTCTGACAGAGAGCCCTTCCTGTGATGAAGGGTCAAGTCCAAACACGGCTGAGCCCAGTCCACCCAGTCCTCTCCCAGAGTCCTTCCGCGGGCTGCCCGGCTCCCTGCCTGTTCTCCTGGAGCTCAGAGAAAGCAGTTCTGAGACCGGGTCCAGCGCCCAGACACCGCTCAGCCCTGAGGAGCCCGATGAGTTCTTTGATACGCAGGAAACGGTTGACGCTTGGAGGGAGAACCCGGCATCCCTGCCCCATCCTGGAACTCCTCTGGAGGTGGGAGCTCCACACGTGCCTGAGCCTTGAAGGAAACAGTGCTCCCTTCACCCCATCCCAGCATGCTCTCGCTGTAGTGCCTCACACCTTCATTGAGTCCCATACAA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa8681
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111444 | Nonsense | 1332 | 1345 | 29 | 29 |
Genomic Location (Zv9):
Chromosome 7 (position 54275509)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 52545359 |
GRCz11 | 7 | 52820429 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAAACGGTTGACGCTTGGAGGGAGAACCCGGCATCCCTGCCCCATCCT[G/T]GAACTCCTCTGGAGGTGGGARCTCCACACGTGCCTGAGCCTTGAAGGAAA
Long Flanking Sequence:
GCGCCGGCCCCTCGTCTCCCACCACGGCTGACACCTCTCCACGCTTCAGCTTCAGTGAGAAGATCACCCTAACGCCTCAGAGCAGTGAAGAGATCCACCAGATCCCTCAAAACAACAACTGCCACACTGTGTCTTTGACATCCGAACCCAGCATACCCTCAGAGGACCCGCACAGCTCCATACCCTCTCCCATCATGGAGAGACCCAGTCAGATAACATCAGACGGCACAGACTCTGCAGGCCAGTGTCTGACAGAGAGCCCTTCCTGTGATGAAGGGTCAAGTCCAAACACGGCTGAGCCCAGTCCACCCAGTCCTCTCCCAGAGTCCTTCCGCGGGCTGCCCGGCTCCCTGCCTGTTCTCCTGGAGCTCAGAGAAAGCAGTTCTGAGACCGGGTCCAGCGCCCAGACACCGCTCAGCCCTGAGGAGCCCGATGAGTTCTTTGATACGCAGGAAACGGTTGACGCTTGGAGGGAGAACCCGGCATCCCTGCCCCATCCT[G/T]GAACTCCTCTGGAGGTGGGAGCTCCACACGTGCCTGAGCCTTGAAGGAAACAGTGCTCCCTTCACCCCATCCCAGCATGCTCTCGCTGTAGTGCCTCACACCTTCATTGAGTCCCATACAAGGGATTTGCCTAAATTTTTAAAGGTATAGTTCACCCAACTCACCATTAGTTTCTGTTAAAGACAAAAAAGAAGTTATTTTAAAGAATGTGAGAACTTCTTGACATCCATAGTAGGAAAAACAATACTTTGGCAGTCAATGGCTACCATTTTTCAAAATTTCCTTGTGAACAGATGCAGGTTGAGTAAATAATGAACAAATCGATATTTTGGGGTGAAATATCCCTTTATGGTAAGTTGAGGAAATGGAGGCCCTCACTTGTTGAAGATGAGAAGCTTAATAAAGTCTCCATGGTTTAATTGTGTAGCGTCATTCAGAGATGCTCCCCGTGTAATGCATCTCTCTCGTTGAATGGCCAGTGGTCAAACATAAGCTGTTAG
Associated Phenotype:
Not determined