ZMP
itpr3
Ensembl ID:
ZFIN ID:
Description:
inositol 1,4,5-triphosphate receptor, type 3 [Source:RefSeq peptide;Acc:NP_001121741]
Human Orthologue:
ITPR3
Human Description:
inositol 1,4,5-triphosphate receptor, type 3 [Source:HGNC Symbol;Acc:6182]
Mouse Orthologue:
Itpr3
Mouse Description:
inositol 1,4,5-triphosphate receptor 3 Gene [Source:MGI Symbol;Acc:MGI:96624]
Alleles
There are 18 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11400 | Nonsense | Available for shipment | Available now |
sa17468 | Nonsense | Available for shipment | Available now |
sa21271 | Essential Splice Site | Available for shipment | Available now |
sa21272 | Essential Splice Site | Available for shipment | Available now |
sa21273 | Nonsense | Available for shipment | Available now |
sa14415 | Nonsense | Available for shipment | Available now |
sa21274 | Splice Site, Nonsense | Available for shipment | Available now |
sa13385 | Nonsense | Available for shipment | Available now |
sa21275 | Essential Splice Site | Available for shipment | Available now |
sa15369 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11400
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 203 | 2656 | 6 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | None | None | 2293 | None | 48 |
ENSDART00000144488 | Nonsense | 200 | 332 | 6 | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21829893)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21259790 |
GRCz11 | 8 | 21291875 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGATCCTGAATCCTGTGAATGCTGGACAGCCTCTCCATGCCAGCAGCTA[T/A]GAGCTTCCCGATCAYTCAGGGTGCAAAGAGGTTTGCGATRARTTAACGAG
Long Flanking Sequence:
AACTACTTTAAAGCAGGGCTAAAAATTTAGTCTTCAGCTGTATATGCAAAATGATTCTTCTTTTTTCTTTGGTTTGGATTAGTTTTGTTTTTAGTGTGCATATAAAATTGCATGCTTTTATAGTCATCACCTACAGTATGTACAAGTACATCAACATTCTTTGAAGTCATACATTTACACACCTAAATACCAACCATGGCCTATAGAAAGCACAACTACTGCATGCACAAAGCCCACGTAAACACTCAAGAGTTATAAAAAAAAGCATGCGAATCATCCTATTACACATTTAAACAGGTTTACCAAGCTAATCTGGGTTTAAATGTTTGTAGATTGCTTCTTCCTTGTGTAAACTGATAGGGATGTACATATTTGCTTTTCAGATATCTGCGGCCATGACACTCATATTGAATGGTTTGTAATCCATTGCAGGTGGTGGTTGGAGACAAAGTGATCCTGAATCCTGTGAATGCTGGACAGCCTCTCCATGCCAGCAGCTA[T/A]GAGCTTCCCGATCATTCAGGGTGCAAAGAGGTTTGCGATAAGTTAACGAGTTTACATTGCATTTGTCTGTCAACATGACTGTGAAGTAGATGTGTTTACCCATGGCTTAAAGCAAGATACTGCAGATGAATAGGGACAATAGGCTAACAAAATAATAAATTATGATAAATTAATAGTCATCTTGTACCCTCACAGCTAATTAATTACATGAAAAAGTTATCAATGTCAATGAAATATGCACTAGTTTGCACACATTTCTAGCACAAAAATGTCAACATGGGATGAAATTAGGTTCAAAATTCTTCTTTTTTTATGACATATTAGAGTGTAACACTCTGTCCTAACAACATGCGACATGATATTTAAGTTACAGCCTAATTACCTAAAAACCTAATTAATGAATATTAAATCTCATTAACATTATTTAATTATATGCTGAATAACTGATGTTATCGGTTGGCCACTAATCTAGTCACAGTTCTAATGTTCCTGTGTAAACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17468
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 395 | 2656 | 13 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Nonsense | 45 | 2293 | 2 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21835478)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21265375 |
GRCz11 | 8 | 21297460 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTACCCCCTGTCTGTTTATCYTTTTCACYGCCTACAGAAATTCTTATGTT[C/T]GATTTCGYCACCTGTGCACRAACACTTGGATCCAAAGCACCAACATTCCT
Long Flanking Sequence:
TTACATGAATAAGCCTGCTCCCGACCAGGTTTGAGCTACCAGAACTGTTGCTATGACAATAACTCTTAGATGAGTTTTGAAGAACGAAATGATCCTGGATCATGTCAAATCGTCAACATCCTAATCCAGCTAACTGAGTAATTCACCTACAAAGAACAGACCCCAAGACTTTACTTTTTATGTTGTGAAAAGTTGTTTTTTCTGTCATGAATGTCTGATTGTTTCTTTGCCTACAGGTGGACAGCAGTCGTATCAAGAGAAGCCTTGGAGAAAGGATTAAATATAAGCTAGTCGCAGTGCCTCATGGGAACGACATCGCCTCTCTGTTTGAGCTGGACCCGACAACACTGCAGAAGACTGATTCATTTGTGCCAAGGTATTACGTTGTGTGCTTTTCTCTCCCTTTCTCTCGGTTTGACTGGCTGCATTCTGTGGGAAGAAGAACTTGATTTACCCCCTGTCTGTTTATCTTTTTCACTGCCTACAGAAATTCTTATGTT[C/T]GATTTCGCCACCTGTGCACGAACACTTGGATCCAAAGCACCAACATTCCTATCGACATCGATGAAGAGCGGCCGATTCGATTAATGGTGAAAAACTTTCCAACTATAATTTCACAGTTTCAACATTTCTGTATTTTGTAAATAGGACAAATTACAACGCTAACTATATGTTTTGCCACAACTTTTGTTTAATTGTTTATTTATAAAGTTGTATGTCACATTGTATTTCTGTTTATAATATAATATTATTAAAGATTTTGCTGGTCAATAAAATAAAAAAATTAAATGTATGAAACCTATGTAATCATGACATGACATAACACATAAATATGAAGGTTTTATGCATCCTTATGACTATTGACATTAGGTGTCATTTGCTAAGTTAAGTCATTTTAAATGCAAAGGTGACATTGTTTGAGATGTCTTTGTCATGACAAGTATGATGTATTTGGTTATTTGTCATGAAAACTTGACAACACCAAAACAACACAACTTGTCATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21271
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Essential Splice Site | 524 | 2656 | 15 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Essential Splice Site | 174 | 2293 | 4 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21838507)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21268404 |
GRCz11 | 8 | 21300489 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAACCGAGAGAGACAGAAACTGATGAGAGAGCAGAACATTTTAAAACAG[G/T]TCGGATTTTTTTTTAATAATTTACAAGTTTGCCCGTTGAAACGTCTTGTT
Long Flanking Sequence:
AACATTATTTAACTCAAATAATGTAATTAAAATGATTGTTAAATTATTGCGTGTGCAGTATTTTAATATTTATTCTATGTCTCCTGGTAGCTGGGCACGTGCCCCACTAAAGAGGACAAAGAAGCATTCGCCATCGTCTCTGTGCCGGTCATGGAGATTCGAGATCTAGACTTCGCCAATGATGCGAGTCTCATGTTGAGCACTGTTGTCGAGAAGTTCAAATACGGTTTTCTCAGTCCTAATGACAGAAGGTACAGTAGAGTTGACACGAGTCCCTGATTTAATCCTTTGTTCTGAGACAACTGAGGATTTACTTTGTAAACAGTTGTAATGTAGACATATTGCCATGTATGCTCAGGTATGCCATTAAGCTGCTGGAGGATGTGGTATTCTTTGTTGTGGATCAACTTAACAATGGCCAGCCGGCCCTGGAGGTGTCGATGAACAAGCCCAACCGAGAGAGACAGAAACTGATGAGAGAGCAGAACATTTTAAAACAG[G/T]TCGGATTTTTTTTTAATAATTTACAAGTTTGCCCGTTGAAACGTCTTGTTTGGTGAAGCTTGGCTTATTGTGCTGTTTTCTGCTTAGATATTTGGGATCATTAAAGCTCCGTTCAAAGAGAGGGGAGATGATCCTCCTCTACTGACACTGGAGGAACTGTCCGACCAGAAATACTTATTGTATCAGTACATGCTCAGGCTGTGCTACAGGGTGCTGCGTCATTCACAGGAAGACTACCGAAAGAATCAGGTACTCCAGTTCACAACCACACAGGTGCCTACGGGTGCTGTGTGTCACCGTGTGGCATCGTTTTGACTTTTGAGGCTTAACAATTCCATAATATGTTAGTAGATATTTAGGAAACATGCAAAGTTCATATCTGTCTTTCTGATGAGACGATAAACTGAGGTCCTGACTCTCTGTGGTCATTAAAATTTCCATGGCACTTCTCGTAAAGAGTAGAGGTGTAATCTCGGTGTCCTGGCCCAATTCTCTTCCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21272
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Essential Splice Site | 821 | 2656 | 21 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Essential Splice Site | 471 | 2293 | 10 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21845951)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21275848 |
GRCz11 | 8 | 21307933 |
KASP Assay ID:
2260-0491.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACTATTTAAACAATCAAAGGTGTAATAATGTTTGCTGTTTTATGTTATA[G/A]TTATGACTCTCACTTGGACTATTCACGAGACAATAAAAAGAACAAGTTTG
Long Flanking Sequence:
TTACTGTACAAACTGCATTGTACATAAATCAGATGAACATTTTCATATCAGTCAATAATATTACTGCAATTAATTAAAAAAACTGACTAAATATATATTTACACACATTTACTGAAGTAAACAAACAGAGGTAATGATGGGCTAGAAATCTGCGGATTCCGTGTGGGCCTACTTAAAGGATAACACAAAACACCACAAGAAGGCAGGACAAAGAAAACAACACATGCAATTTGTAACAAAAATAAATTAATTAACTTTAGTCGTAACACTACCCAATATCTTAATATAATTATTGATCTAATATCTATTAATAAGCAGCAAATTATGAGTTTATTGAGATAAATATGATTTAACTGTGAGAACTGTACCTAATAAAGTGTAACCAAACAAAATTACTGAATGATCTAACATCTAACAAACATTAAACATTTTTACATGGCAGTAAAGAGTGACTATTTAAACAATCAAAGGTGTAATAATGTTTGCTGTTTTATGTTATA[G/A]TTATGACTCTCACTTGGACTATTCACGAGACAATAAAAAGAACAAGTTTGCTAATACCATGGCTTTCATGGAGGAATACCTCAACAATGTGCTCATCGATGACCTGCCTTTTGCAAACGAGGAGAAAAACAAGCTAACGTATGAGGTACTGTGGCATATTATTATGCTTTAGCTCCACTGGTAGTGCTTGGGAGTATTTATGGCTGCATACTTAAGCGTTGAATAAAACCATCTGTAAGATATTTCCAAATCATCTTCACATTTTTGCTTCATTTGCATGTTTGTAGGTGGTGAGCTTGGCGAGGCATCTCATCTACTTTGGCTTCTACAGCTTTTTCGAGCTCCTGAGATTGACTCGCACTCTTCTGGGAATCATAGACTGCACTCCGAGCAACGCTTCCATCAACCCACTGTTCAACGATGATGGCAGTGGTCAGTACTGAATAATGTTTAGATGTTTACATGGCTCCAAACCCGCTACTGAAATGGATGCAAAAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21273
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 868 | 2656 | 21 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Nonsense | 518 | 2293 | 10 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21846093)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21275990 |
GRCz11 | 8 | 21308075 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCATCGATGACCTGCCTTTTGCAAACGAGGAGAAAAACAAGCTAACGTA[T/A]GAGGTACTGTGGCATATTATTATGCTTTAGCTCCACTGGTAGTGCTTGGG
Long Flanking Sequence:
TAGAAATCTGCGGATTCCGTGTGGGCCTACTTAAAGGATAACACAAAACACCACAAGAAGGCAGGACAAAGAAAACAACACATGCAATTTGTAACAAAAATAAATTAATTAACTTTAGTCGTAACACTACCCAATATCTTAATATAATTATTGATCTAATATCTATTAATAAGCAGCAAATTATGAGTTTATTGAGATAAATATGATTTAACTGTGAGAACTGTACCTAATAAAGTGTAACCAAACAAAATTACTGAATGATCTAACATCTAACAAACATTAAACATTTTTACATGGCAGTAAAGAGTGACTATTTAAACAATCAAAGGTGTAATAATGTTTGCTGTTTTATGTTATAGTTATGACTCTCACTTGGACTATTCACGAGACAATAAAAAGAACAAGTTTGCTAATACCATGGCTTTCATGGAGGAATACCTCAACAATGTGCTCATCGATGACCTGCCTTTTGCAAACGAGGAGAAAAACAAGCTAACGTA[T/A]GAGGTACTGTGGCATATTATTATGCTTTAGCTCCACTGGTAGTGCTTGGGAGTATTTATGGCTGCATACTTAAGCGTTGAATAAAACCATCTGTAAGATATTTCCAAATCATCTTCACATTTTTGCTTCATTTGCATGTTTGTAGGTGGTGAGCTTGGCGAGGCATCTCATCTACTTTGGCTTCTACAGCTTTTTCGAGCTCCTGAGATTGACTCGCACTCTTCTGGGAATCATAGACTGCACTCCGAGCAACGCTTCCATCAACCCACTGTTCAACGATGATGGCAGTGGTCAGTACTGAATAATGTTTAGATGTTTACATGGCTCCAAACCCGCTACTGAAATGGATGCAAAAGTTATTTTTTAAGGCAAAAAATGATGACTATCACACATTTTATAATGTTTTACAGATGAAACCTACCAAATGAAATAAAGTGTAACAATAGTTATATACCAAATACTCAAATCTAGTCACAAAAATCATTTAATGACATTAAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14415
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 964 | 2656 | 23 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Nonsense | 613 | 2293 | 12 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21847842)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21277739 |
GRCz11 | 8 | 21309824 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGWCGAWCTGGAGACAGTCAAGTCGGCAGTAAAGACAGCATCGAYACA[C/T]AAGACATCACTGTCATGGACACCAAACTCAARATTCTGGAGATTTTACAG
Long Flanking Sequence:
AAAATAATGATTTAAAGTTCACATTTAATGAGCAATTGTGTAATTTGTGTACTTGAATAAAAGGCTAAAAAAGTCAATAAAATTATTTTTTAATAACTTTAATTACTTACATCTTTTTTTACATATTTGTTCTGGTGTGTGTAATAAAAAAACTTCTACATATTTTTTTGTTTTCATTCTATACTAACAAAAATAAAAAGTAATGTAAAAATAAAATGTGCGACACAGAGGGAAACCCTTTATTTCTCAATTAGCTCACTGTTTGTTTTAGTCTGGTATTTGTATATACTTATATAAACTAAAACATCCTAGAATTTCAGTCTCCAAAATGGCCAGTAAATTGATTGAATCATTAATTTTTAGGTAAGAACGTCAGGCGCTCCATTCATGGCATGGGACAGATGATGTCTACCATGGTGCTTAACCGAAAACCATCTCTGTTCTCCGCTCCTGGTCGAACTGGAGACAGTCAAGTCGGCAGTAAAGACAGCATCGACACA[C/T]AAGACATCACTGTCATGGACACCAAACTCAAGATTCTGGAGATTTTACAGGTAGTGTGTTCAAGTTATCTTTATTTCTATAGCACTTTATAAAATGTAGATTACAGTATATCAAAGCCACTTTACAAGAAGATGGCAACATTTTATTATTGTGGAACATATTTATTGCTGATGGTAGAAGAATAGTAGTAGACTGCTGCTCTAGTTCCATTAAAAAAAAAAAAAAACAGTTCAGTTTAATACGAATGAAGATACACTCAGGGGTAATGAAAAATTGTAAAATGTAAAAAAAGTCAAAAAATTTTTTACTAACATTAATGAAATAGTTTACCCTAAGTGAAAATTATCACATAATTTTTTCTTCCCAAAGCCATACTCTGTGTTTATGACTGTTCTTTCGGACAAACACAGTTGTTATAATTCACATATTTTCTTTGCTGTAAAATTGTGTTGGGTAGTGGGTCTTTTTTGAAACTTCCAAAAGCACATAAATCCATCGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21274
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000088119 | Splice Site, Nonsense | 1097 | 2656 | 26 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Splice Site, Nonsense | 741 | 2293 | 15 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21852233)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21282130 |
GRCz11 | 8 | 21314215 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTGTTCAAGCACTTCAGTCAAAGACAAGAAGTCCTTCATACTTTTAAA[C/T]AGGTAAAAAAGCTGTGCCTAAATAGTTCAGATCAAACATCTGTAGGTAAA
Long Flanking Sequence:
TTAAATGTCACTTTAAGCTGTATAGAAGTGTCTTGAAAAATATCTAGTCAAATATTATTTATTGTCATCATCGCTAAGATAAAATAAATCATTTATTAGAAATGAGTTATTAAAACTATTATGATTAGAAATGTGCTGAAAAAAATCTTCTCTCCGTTAAACAGAAATTGTGGAAATAAGTAAACAGAGGGGCTAATAATTCAGGGGGGCTAATATTTCTGACTTCAACTGTATATTAATTATTGAAATAAAAAAAGTCCCAAAAAATGTGAAATATTACTATTGCGCATGATCACTCACAACATTGTATAACCTCTGCCCTTTCCTCGCTGTACAGTAAAGGAAACAGCATTCTGGAAGTGGATGATGAAGGAGGACGAATGTTTCTGCGTGTTTTGATCCACCTCATCATGCACGACTACCCTCCATTGGTTTCTGGGGCCTTGCAGTTGCTGTTCAAGCACTTCAGTCAAAGACAAGAAGTCCTTCATACTTTTAAA[C/T]AGGTAAAAAAGCTGTGCCTAAATAGTTCAGATCAAACATCTGTAGGTAAAGAACATTTCGAGATGTGCAAAATGGAGATTTAAAGGGATCGTTTACCCAACAAGGTAAATTCTGTCATTACTTACTTTAACGTTTTTACTTAAACTTAAACATTTTCTTTCCTCTGTTAAAGACAAAAACATATTTTGAATAATGCTGAAAACCTGTAACCATTGACTGCCAGAGAAAGTTTTTTTTCAATGGTTACAATTTTCCAGCTTTCTTCATAATGTCTTCTTTAGAGTTCAACAAAAGAATAAAAACACTTTTAGAACCAATTGAGGGTTAGTAAATAGGGAGCATATTTGAATTTTTTGGGTAAAATATCCCTTTAAGGAACGCTAACATTATGGGATCTGTTTTAACAATCTAGGCGCAAAACGCAGGGCGCAAAAAGCATTAAAGGCATGTCTGAGTCCACTTTTGCATCATGGTGCATTTGCAATTTACATGGCAGTGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13385
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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 1110 | 2656 | 27 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Nonsense | 754 | 2293 | 16 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21853548)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21283445 |
GRCz11 | 8 | 21315530 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCTTTTCAGGTCCAATTGCTTATTTCAACTCAGGATGTGGACAACTA[T/A]AAACACATAAAACGAGATYTGGATCTGCTGCGCACCATGGTGGAGAAGTC
Long Flanking Sequence:
AAACGAATAAATGAATAATAATAACAAAGTGTGGTCAAAAAACTGAGTTATATTCAAACACACATGCTATGCCCCATATGGTCCAAAACCTGACAGGTGGACAAATCTAAGCTTGTTTTTAATAAAACAAATATAAATATGGATAAAATGGATTAAAAATGGATTTGTTTATTGTTTTTTAAATAACATGATGGAAAATGGGAAAATTAGTGTTGCATTGGTCTGAAAATAGCAACACGTCGGGGCAAACAGGTCCTGCACCTTATTGTGCCAGGTGTATGATATGGTCCAACATTTGACTTAAAAAACTAATAAAACATAACTAGCTTTAAAAATCTGACATTCTTGCTCATCCTTATGCAGCAAATTACAATTCTGGTACCACGAAAATAGAAAATGCTAAAATGCAGGCCTTTTTAGATTAAAAACCATGTCTTTCATTCTGCTGTTTGTTCTTTTCAGGTCCAATTGCTTATTTCAACTCAGGATGTGGACAACTA[T/A]AAACACATAAAACGAGATCTGGATCTGCTGCGCACCATGGTGGAGAAGTCTGAGCTTTGGGTCATTAAAAAGAGCAGTTCTGGGGGAGATGGAAAGAAAGACAAGAAAGACAAAAAAGAGCCTGAAGCGGTGCGTCATACACTGAGGCATGTGTATTAATGTGATTAAACATGTGAAAAGAATGTTACTTATTTTTTTTCTTTTATGCAGGTGTCACCTGAGGAGGAGGCTGATTCTAAGAAACAGACAACTGAAAAAAGCAATGAAAGCTACCAGAATGTTAAAGAGGTGATGTTTCAGCATGTGTTCTCAGACTATATAGTTATTATACTGGAGTCCAAAATGTCTAAGATGTTTAGTTACATTACTGTTTAAAAGGTTGAATCTGTAAGTGTTTATTTTAAATATTTATTTTTATATTTGTTTAGCAATAATGCATTCATCAAGCCTAATTAATGCATAGTTCTTTAAAAAAGGAAAATGATTGATAAATGAAAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21275
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 |
---|---|---|---|---|---|
ENSDART00000088119 | None | 1828 | 2656 | 41 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Essential Splice Site | 1469 | 2293 | None | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21865265)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21295162 |
GRCz11 | 8 | 21327247 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGGGGAAATGAGCAACAAAGCCAAAGATGACAAAGATCTGGAGACTGG[T/A]AATGCAACCCCACACTTGCTTCCTCTGTAAGGGACACTCCACTTTTTTTG
Long Flanking Sequence:
ATGCTAAATTGATACTGCAGAATTATTAAGATACAATTCACAAGCAAGACTCCTGACTTATGTTTGTTAAGGTGCAGAGGGCGAGAGAGACTGGCTAACAGTGGCAGCATTACAGTGTCGCCTGGACAAAGAAGGCGGCACCAAACTCTTCACAGACCTCATCACCAGCACCAAGAATGAGAAGATCTTCCAGGAGAGCATTCAGCTCGCTATCTGTCTGCTAGAAGGGGGAAACACAGAGATCCAGGTGGAGGAATAGCTTCTGTGCTAATAGAGCTAGCAGGAGGATCAGTACATTATGCATTATTATGATTATATTACTCATCTTTATAACAGAACTCCTTCTACAAACTCATGATGGGAGACAACAAGTCTGAGAAGTTTTTTAAAGTGCTGAATGACCGCATGAAGAACGCACAGCTTGACATCAAATCCACCGTCTCTGTCAATGTGGGGGAAATGAGCAACAAAGCCAAAGATGACAAAGATCTGGAGACTGG[T/A]AATGCAACCCCACACTTGCTTCCTCTGTAAGGGACACTCCACTTTTTTTGAAAATAGACTCAATTTGCAGGTTGAGTTTAACCATTTTTAAATCCCTTTAAACTGATCTCCAGGTCTGGCAGGGATACTTTTAGCTTAGCTTAGCATAGATCATTGAATCAGATTAGACCATTAGCAGCCCATTCAAAAATGTCGAAAGGGTTCAATAATTTCCCATTTAAAGTTTGACACTTCTATAGTTAAATCGTGTACTAAAAACAATAATGAACAGTTGTTATTTTCTAGACTGATACATGTAGGAACTTTACTCTCATTCTAGCGTAATAATAATTTTCCTTCAGGTGGCGTATCGTCGTTTGGCCAGCCTGAGCCTCAACCTGAACAACAGGAAGTGGAAACAGAAATGGGGCCATCTGTCACCATCATGAAACCCATCCTGCGCTTTCTACAGCTGCTCTGTGAGAACCACAATCAGGACCTTCAGGTCTGAACAACCCCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15369
Status:
Available for shipment
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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 |
---|---|---|---|---|---|
ENSDART00000088119 | Nonsense | 2094 | 2656 | 48 | 59 |
ENSDART00000088133 | None | None | 226 | None | 8 |
ENSDART00000129359 | None | None | 232 | None | 7 |
ENSDART00000142836 | Nonsense | 1722 | 2293 | 37 | 48 |
ENSDART00000144488 | None | None | 332 | None | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 21870356)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 21300253 |
GRCz11 | 8 | 21332338 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACAGTATTTTATTCTGGCTTTTTTATTGCAGCTCAAYCTGAACAAGCAG[C/T]AGGAGGAGGAAAAGGAGGATCCACTAGAGCACTACGACCRTCAAACTGCT
Long Flanking Sequence:
TATGGTAACTTACGACTTTGACATTTATGAAGCAGATTTCTAATATGGGTGTCATGGTGTCACAGTGGGTAGCACGATCATCTCACAGCAAGAAGGTCGCTGGTTGGAGCCCTGGCTGGGTCAGTTAGCATTTTTGTGTGGAGTTTGCATGTTCTCCCTGTGTTTGCGTGGTTTTTCTCTGGGTGCTCCGCTTTCTCCCACAGTCCAAAGATATGCGCTATAGGTGAATTGAATAAACTAAATTGGCCGTAGTGTATTTGTGTGAATGCAAGAGCGTATGGGTGTTTCCCAGTGCTGGGTTGTAGCTGGAAAGGCATCCGCTGCATAAAACTTATGCTAGGTGGGTTGGTGGTTCATTCTGCTGTGGCGACCCCTGAATAATAAAGGGACTAAGCCAAAAAGAAAATGAATGAATGATTTTTCAATATAGCCTTTAGAATGCTTCATCATTACAGTATTTTATTCTGGCTTTTTTATTGCAGCTCAATCTGAACAAGCAG[C/T]AGGAGGAGGAAAAGGAGGATCCACTAGAGCACTACGACCGTCAAACTGCTCAGATTGAGGTATAGACAGTGTAGATTACAGTATAAATGCAGTCAAACCTCTGATATCATTTTTGACATGTTTTTATTAGTAGAAGCAGGATAATATAGTTCATTTATTTACAGCAAGACAGTATAGCCAATCAAAATCACATATTACAACCTACAATTATTCAAACAGTGGACTAAAACCAAACAGGAAGTTAAGTAATCTTTGATTGTTTAATTTCATACTGTAATTCTTTCCATACTGTACATTTCTACAGACGTTATCTGACATTATTCTGAGTTCTTTTCTATACTATAGTAAATAAACTGTGTTAATGTGAGCGGTATGAATAATTTTTGGTTTTTCTGCGTAGTATTTCTTTGCACTATAATCCTTGGTGTTATTGTAATTTCTGCTCATCTAGTGATTTAAATGAGTCTGATATTCCGTAAGGTGTTTTTCTATTGGTGTAT
Associated Phenotype:
Not determined