ZMP
ENSDARG00000007906
Ensembl ID:
Human Orthologue:
LRP2
Human Description:
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Mouse Orthologue:
Lrp2
Mouse Description:
low density lipoprotein receptor-related protein 2 Gene [Source:MGI Symbol;Acc:MGI:95794]
Alleles
There are 22 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa9938 | Essential Splice Site | Available for shipment | Available now |
sa9724 | Nonsense | Available for shipment | Available now |
sa22063 | Nonsense | Available for shipment | Available now |
sa14439 | Nonsense | Available for shipment | Available now |
sa35240 | Nonsense | Available for shipment | Available now |
sa2638 | Nonsense | Available for shipment | Available now |
sa22064 | Essential Splice Site | Available for shipment | Available now |
sa22065 | Nonsense | Available for shipment | Available now |
sa18454 | Essential Splice Site | Available for shipment | Available now |
sa17806 | Essential Splice Site | Available for shipment | Available now |
sa1015 | Splice Site, Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9938
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Essential Splice Site | 117 | 4409 | 3 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17207378)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16087088 |
GRCz11 | 12 | 16135898 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGACCATGTGCCAGACTGTGTGGATAACTCTGATGAGAACAACTGCAG[T/A]ARGAACYTTTCTTCCCATTTACTATTCCTCTGTARCAATGTGGATTTTAA
Long Flanking Sequence:
GGAACAAAGGACTGCACGGACAACTCTGACGAACTCAACTGCCGTGAGTATCTCTTGATGAACACTGACCCATAATGTGATGATGTGATGTCAAAGCATTTGTTTAATGCAAATACATTTATTATTATAATTATTTACCTCGTTCTTTTAGCATTACCCACCTGTAGCTCTCAGGAGTTCAAGTGTCTGACAGGAGGAGAGTGCATTCCTCTTGAGTTTGTATGTGATGGAGAAGCAGACTGCGCTGATGGCTCTGATGAGCAAAGGACCTGTAGTATGTCTACATAATTAAAATTTGGTTAATTCCGTTAAAAATAAGAAATAATATATATAACACATATAACACAGACAGTCTATGACCCCACCTTTTTTATTTTTTAAGGTGGTCAGACGTGTAGTCCAGACCAGTTCACATGTAGAGAAGGGCAGTGTATTCCCAAACAATACAACTGTGACCATGTGCCAGACTGTGTGGATAACTCTGATGAGAACAACTGCAG[T/A]AAGAACCTTTCTTCCCATTTACTATTCCTCTGTAGCAATGTGGATTTTAAACAACAGAATGTAGTAATTATCAAATCAGGCAAGTCTAACATATTTTGTAATTATTTAATTTTATGACTGTAATGAAACTCATGACTTATAGGGGTCTTTAGTAGATATGTGCTTTGTGAATTTTTAATTACTTTCAAACATTTAAATTAGGTGTTGTTTAACTGAGCAAGCACATTTTCACAGTATTTTACAGATTTTCCCCCATTGGCCACAGAACAGGCTCTGGTTGTTGAATGACTTAATCTAACTTGCCTAATTTACACCTTGTTGTACCCTTAAGCTAAATGCTTGTATCTTGATAATTTACTTGTAATATATTATGTATACTGTCATCAGAGCAAAGACAAAAGTAATTAGCTATTAAAAAATTATTTAACTATGTTTAAAAATGTGTTGAAAACTATGTTTGCTCCATTAACCTCATGTCGTGTTCACATCCCGGCGCTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9724
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 978 | 4409 | 20 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17226140)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16105850 |
GRCz11 | 12 | 16154660 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTACACCTGCATCCAGCCGTGTGTGTGGATGTCCCTTTGGCATGAAGCTG[C/T]AGGAGAACCAGAGAGACTGTGTGAAAGATGACTCTGAGCCCCCTCCAGAT
Long Flanking Sequence:
GAAATAAGTTATTAAAACTTATTATGTTCAGAAGTGTGTTCAAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAATCTTCTCTCCGTTAAACAGAAATTTATTTAATATACATAAACATTATTTCTTCATTGATGCCACAAGAGCTTTCTCACTCTGATATATTTGACTTTATGCACACCAAAGCAATATCAAAATTGATTTAGATTAATTCTCATATTACAAGTTTTTATTTAGTTTTTTTTTTAATGTTCAAAGTGATAATGAATTGCTGTGATCTGTACTGTAAAGTGATACTGTACTAAATTATTGTACTTTTTACAGTATTTAAAAGCAGATGCAATATGATTCCAAACGGACGCTGCAGCCACTTTTGTTTTCCTACACCTGCATCCAGCCGTGTGTGTGGATGTCCCTTTGGCATGAAGCTG[C/T]AGGAGAACCAGAGAGACTGTGTGAAAGATGACTCTGAGCCCCCTCCAGATGATAACTGCGGAGACTATGCCTTTCCTTGTGACGGAGGTCGCTGTGTGCCCAATACTTATCGATGTGATGGTGTAAACGACTGCGTTGACAAGACTGATGAAGTCAACTGCACTCTTCCAGGTATGTACTGTATGTACCAAAACCTTGCATAGGGGGAAACTTAACTTAAACCAAAGATTTGTAAATACACTGTTTGCAGCATCTTCAGATGAAATTATTACAGAAGTGTGAAGGGTTATTTAACCTATGACATGCATAAAAGTCACATCTCGTGCACTTAAAAGGCTACTTTTTGAATTAAACAAACTTAAATGAAGTTATTACAGTAGAAAATATAAACAATCCTTAATATAAAACAATTAAGTTCAATGCCAAACACTCAACACTAAGCTGTACCTCCCTTTGGCTTGATTTTTGACTGATGTCTTGTGCCTTGTCCTCTATCTGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22063
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 1615 | 4409 | 29 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17236294)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16116004 |
GRCz11 | 12 | 16164814 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGTGTTGAATTTTTCACTCTGTTCTATCTGTACCTGCAGGTGCTTCAA[C/T]AACCCCATGGCATTACCATCTTCGAAGACAACATCTTCTGGAGTGACAGT
Long Flanking Sequence:
CTGGTTCTAGACCCCCGCAACCAGTATGCACTTTGGATATACATATTTATTTGTTGCTATTGTTTGTACAAAAAATAACGTTGAGATACTGCAAAAGTAGTTTTGCTGTATATAGTCATATAATAATTATATAATGATAATTCCTTTCTGTTTTCTTTTCAGTACTAATTTAATGTTCTGGTCAGACTGGGGTCAGAACCCTCGTATAGAACAGGCTAGTATGGATGGACTCGGAAGAAGAGCAATTGTGACTAGCAAAGTATACTGGCCTAATGGACTTACACTGGATTACACAACTAGAAGAGTATATTTTGTTGATGCCTACCTAAAATACATTGACTACTGTGACTATGATGGCAAAAACAGGCATCAAGTCTTTGCGAGTGACATAGTAAGAGTTCGGATCTACCTATATTTTACTATCAGATACAAGGTCACAGACTAAATTCATCTGTGTTGAATTTTTCACTCTGTTCTATCTGTACCTGCAGGTGCTTCAA[C/T]AACCCCATGGCATTACCATCTTCGAAGACAACATCTTCTGGAGTGACAGTTACACAAGCCAAATCATGAGGACTAATAAATTTCATGGGGGAAACATAACCACTCTTCTGACCGGTGTTTATCAGTGCATGGGAATTGTAATGGATCACCCCATTAAACAGCCTATAGGTTAACCTTTTATGCCAGTTCTTAATTAAAAGACGTCTTGCTGTTTTATTTGTTAGTTTTTCACTTGACTAACATAGTCTGTTGATTTCCATATAGCATTTAATCCTTGCGAGAACAATCCATGCAGTCAGCTGTGTCTGCTATCAACCTTAAGACCCAGATACTACAGATGTGACTGCCAGTCTGGCTGGATCCTTGCCAGTGATGGTCGTACTTGCACTAAAGGTACTAAAGGAGTTTTGACAAATTGACTGCACCAAACGAGTTCTACATAGCATTTTACATGACTCAACGATGCTTTTTGCCTAGATGAAACACCATTCTTGATGGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14439
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 2105 | 4409 | 37 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17239993)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16119703 |
GRCz11 | 12 | 16168513 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACTCATCATACCGAGGCATTTACAGAACAAAGACGGATGGCTCACGCTA[T/G]TCTACAGTCATCAGTCAATTGGGCAATGGAAGAATTCAGGGCTTAGCGGT
Long Flanking Sequence:
AAAAGTTATCAAAATGACTTATTTTATCAAATAAATTGTTAAAGACAATAAAAATACTTTAAAATCTTTTATTTTTAATTTTTAATCACATCCATTCAATGAAAGAATATTGCAATAATTGGCAAAAAACACATTTCAAAATACTTATAATTCTACCTGCATATGTGTAAAGATTTTAACAATTCTATTAAAACATCAGAATTTCATTATTTTGTATTATGTTGTTTATAAAGGACTGATTCAATCTTGTAGGACATCAAAGGCACTTTATTGTGATAATTAACCAAATAGTATAATTAGTTGCAAGTAGGTCCTGTGATATAACATTGTGAACTGTATTGTCAACAACAAAATATCATGTACTTTCATTATGTAGATACATACTCGATTATTGACAAGCTGGACATGCACATTGCTTCTGGATTCCTGTACTGGACTGATAACAGCACCTACTCATCATACCGAGGCATTTACAGAACAAAGACGGATGGCTCACGCTA[T/G]TCTACAGTCATCAGTCAATTGGGCAATGGAAGAATTCAGGGCTTAGCGGTAGACTGGATTGCAGGTAAGTTGCAACAAATTGCAGTAAATAGTGAAATTGATGTACACCTTGAAGAATGTGGCTTTCTGTGTTTATATGTATTGAACTATTTGTTTTTTATGTCAGGAAACTTGTACTTCACTAACAAATTCACCACTCAGACATACATTGAGGTGCTACGTTTGAACACAAGCATTCAACTGATCCTCCTGAAAAGTTCAGCAGATCGTCCCCAAGATCTTGCTGTGAGCCCCAAGTTACGTCTTCTCTTCTGGACTGATGCTGGTCAGTCCCCTAAGATTGAAAGTGCTCTTTTGGATGGTACCAATCGCACAGTTCTTGCTTCTGAGAGCCTTTCATCCCCCCGAGGCCTTACAATTGATTACACCAATGACTTTCTGTACTGGGTTGATGACACACTGGATATGATTTCTCGAATGGCTCCTGATGGTTCTCAACG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35240
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 2112 | 4409 | 37 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17240013)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16119723 |
GRCz11 | 12 | 16168533 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACAGAACAAAGACGGATGGCTCACGCTATTCTACAGTCATCAGTCAAT[T/A]GGGCAATGGAAGAATTCAGGGCTTAGCGGTAGACTGGATTGCAGGTAAGT
Long Flanking Sequence:
ATTTTATCAAATAAATTGTTAAAGACAATAAAAATACTTTAAAATCTTTTATTTTTAATTTTTAATCACATCCATTCAATGAAAGAATATTGCAATAATTGGCAAAAAACACATTTCAAAATACTTATAATTCTACCTGCATATGTGTAAAGATTTTAACAATTCTATTAAAACATCAGAATTTCATTATTTTGTATTATGTTGTTTATAAAGGACTGATTCAATCTTGTAGGACATCAAAGGCACTTTATTGTGATAATTAACCAAATAGTATAATTAGTTGCAAGTAGGTCCTGTGATATAACATTGTGAACTGTATTGTCAACAACAAAATATCATGTACTTTCATTATGTAGATACATACTCGATTATTGACAAGCTGGACATGCACATTGCTTCTGGATTCCTGTACTGGACTGATAACAGCACCTACTCATCATACCGAGGCATTTACAGAACAAAGACGGATGGCTCACGCTATTCTACAGTCATCAGTCAAT[T/A]GGGCAATGGAAGAATTCAGGGCTTAGCGGTAGACTGGATTGCAGGTAAGTTGCAACAAATTGCAGTAAATAGTGAAATTGATGTACACCTTGAAGAATGTGGCTTTCTGTGTTTATATGTATTGAACTATTTGTTTTTTATGTCAGGAAACTTGTACTTCACTAACAAATTCACCACTCAGACATACATTGAGGTGCTACGTTTGAACACAAGCATTCAACTGATCCTCCTGAAAAGTTCAGCAGATCGTCCCCAAGATCTTGCTGTGAGCCCCAAGTTACGTCTTCTCTTCTGGACTGATGCTGGTCAGTCCCCTAAGATTGAAAGTGCTCTTTTGGATGGTACCAATCGCACAGTTCTTGCTTCTGAGAGCCTTTCATCCCCCCGAGGCCTTACAATTGATTACACCAATGACTTTCTGTACTGGGTTGATGACACACTGGATATGATTTCTCGAATGGCTCCTGATGGTTCTCAACGGGAGATTGTACGCTTCGGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2638
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 2704 | 4409 | 42 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17244421)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16124131 |
GRCz11 | 12 | 16172941 |
KASP Assay ID:
554-2810.1 (used for ordering genotyping assays)
KASP Sequence:
TCAAGTGTGATGGCTACAGGGACTGCCTTGATGGGTCTGATGAGCTTGAA[C/T]GAGTTTGTGGTAAGTGACTTTAGCAATTTAACAGTTGTTTCATTTAGTTT
Long Flanking Sequence:
TGTGGCTGTAAGTGTCAGCGTCAACAGGAAATGAGTGGATCCTTGCACCTGTTTGTTGTAGGAGCTGTGTCTGTGGTGTGTACTGTGGCTTCTGAGATTAGATAATAGTCCGTATTCAGTGTTAAAGGGGATCCAAACTAAGGAAAGTTATTGTATGTTGATCAGTAAAATTATAATACAACATATTAACAGTGTAAGAGTGTAAATATATACATTTTATTTTGCCATTTTACTAACTCCCAAACTTTTGGACATCATTTGCCTTTTGATAAGCTTCTCATGGTTTCATTTATGACTTAATCTCAGGTCCAGCTGGTCCAGAGTGTCAGTGTCCCAGCACTGGTAACTGGTATCTGGCCAACGAAGGGAAAGACTGCATCCCTGACAATGGGCAACGTTGTCATGCAGATCAGTTCACCTGTCTGGATGGAAGATGTTTGTCTCAGAATTTCAAGTGTGATGGCTACAGGGACTGCCTTGATGGGTCTGATGAGCTTGAA[C/T]GAGTTTGTGGTAAGTGACTTTAGCAATTTAACAGTTGTTTCATTTAGTTTGCATATGTTTTGTCTTTATTGATTAAAAATATAACCATTAATGTTTCCTCTATAGCTTTTCACACCTGTTCACCAACTGAATTCACCTGCGATAATGGAGGCTGTGTGCCTCTGTACTATGTGTGCGACTACACTAATGACTGTGGAGATAACAGCGACGAGCATGGTTGTCCCTTCCCTACTTGTAACCCTTCCACAGAATTCACCTGTGCTAACGGACGCTGCATCAGTGCAGCTTACGTGTGTGATGGGATCAATGACTGCCGAGACAATGGCACCACAGATGAAGTTAACTGCCGTGAGTACAGTTCAATCTTTTTTTTATTAATTATATATTATTTTGGTATTAAACCTAAACGCTTGATTCTGACTGGAAAAGGAACATTCTAAGGTGTGTAATTTTCTTTAGAGAGGCACACACAAAAAGAAGTTCAAGACATATCTTTTCCG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22064
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Essential Splice Site | 2707 | 4409 | 42 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17244432)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16124142 |
GRCz11 | 12 | 16172952 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTACAGGGACTGCCTTGATGGGTCTGATGAGCTTGAACGAGTTTGTGG[T/C]AAGTGACTTTAGCAATTTAACAGTTGTTTCATTTAGTTTGCATATGTTTT
Long Flanking Sequence:
GTGTCAGCGTCAACAGGAAATGAGTGGATCCTTGCACCTGTTTGTTGTAGGAGCTGTGTCTGTGGTGTGTACTGTGGCTTCTGAGATTAGATAATAGTCCGTATTCAGTGTTAAAGGGGATCCAAACTAAGGAAAGTTATTGTATGTTGATCAGTAAAATTATAATACAACATATTAACAGTGTAAGAGTGTAAATATATACATTTTATTTTGCCATTTTACTAACTCCCAAACTTTTGGACATCATTTGCCTTTTGATAAGCTTCTCATGGTTTCATTTATGACTTAATCTCAGGTCCAGCTGGTCCAGAGTGTCAGTGTCCCAGCACTGGTAACTGGTATCTGGCCAACGAAGGGAAAGACTGCATCCCTGACAATGGGCAACGTTGTCATGCAGATCAGTTCACCTGTCTGGATGGAAGATGTTTGTCTCAGAATTTCAAGTGTGATGGCTACAGGGACTGCCTTGATGGGTCTGATGAGCTTGAACGAGTTTGTGG[T/C]AAGTGACTTTAGCAATTTAACAGTTGTTTCATTTAGTTTGCATATGTTTTGTCTTTATTGATTAAAAATATAACCATTAATGTTTCCTCTATAGCTTTTCACACCTGTTCACCAACTGAATTCACCTGCGATAATGGAGGCTGTGTGCCTCTGTACTATGTGTGCGACTACACTAATGACTGTGGAGATAACAGCGACGAGCATGGTTGTCCCTTCCCTACTTGTAACCCTTCCACAGAATTCACCTGTGCTAACGGACGCTGCATCAGTGCAGCTTACGTGTGTGATGGGATCAATGACTGCCGAGACAATGGCACCACAGATGAAGTTAACTGCCGTGAGTACAGTTCAATCTTTTTTTTATTAATTATATATTATTTTGGTATTAAACCTAAACGCTTGATTCTGACTGGAAAAGGAACATTCTAAGGTGTGTAATTTTCTTTAGAGAGGCACACACAAAAAGAAGTTCAAGACATATCTTTTCCGCATTACTTAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22065
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Nonsense | 3369 | 4409 | 52 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17256406)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16136116 |
GRCz11 | 12 | 16184926 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTAATATTTGTTTTGCTACAGTTATGCTGATATGGATGGTCAAAAC[A/T]GACACAGAGCTATAACAGGCTCCTTGCCCCATGCTTACGCTCTGACTCTG
Long Flanking Sequence:
AAAAAAACTTTTTAAACTAATTAATTTTAAATAAAACCAGTGTTGCTATGGTAGAATAATGTCTGCTTTCCAAATAAATAAATTCTGTCATAATTTGGAAAAATCTTTGAGTCAATTCAGCTGCCCTTAGAAGCTCTGGTTCCCATGTAGACTTGACACTTTCACATTGACTGACCCAAAACACTTTTTATGTAATTTAAGCATAAGAAATAGCATTTATTAGGCAGTTAATGTCAATTATTATGTTCATCAGAAAATTTCTGATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAGCGATTTTACTTTTCCCTCATTCAAATTGGTCTTGTATGCTGTTAATAGCTGTCCAGAGACAGTGCAATTGTAGCCTTGTTTAACCTTAATATGTTATGTGTTGTGTATTCTTAAAAGCTGTTCTTCTAATATTTGTTTTGCTACAGTTATGCTGATATGGATGGTCAAAAC[A/T]GACACAGAGCTATAACAGGCTCCTTGCCCCATGCTTACGCTCTGACTCTGTTTGAGGATTTGGTGTACTGGACTGACTGGAATACCCACACCATAGAGCGAGCTCACAAGTACACAGGCGCTAACCGTGTTGTAATGGGCAACAACACACATCGCCCTAATGACATTCATATCTATCACCCTTACAGACAGCCACACAGTAAGACAGCATATTATTTAGTTCACCATTAACTTCAATTGTTTGATAGCTGTTTGGATAATTAATTAATATATTCTTAGGTGAAAATCCATGCAATGACCATTACCTGACCTGTAGTCACCTGTGTCTGATTGGTCCGGGTGGGACGGAGGCCAGATGTGAATGTCCGGACCACTTCATTGGTCTGGCTATCGGATTTAAGATTCAGTGTGTGGCCGACTGCTCCAGCACTCAGTTCCGCTGTGGAGACAATGAGAAGTATGTGAATTAATTATCTCATGATTTCCCAGGGTATTTAATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18454
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Essential Splice Site | 3435 | 4409 | 52 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17256606)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16136316 |
GRCz11 | 12 | 16185126 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATCGCCCTAATGACATTCATAYCTATCACCCYTACAGACAGCCACACAG[T/A]AAGACAGCATATTATTTAKTTCACYATTAACTTCAATTGTTTGATAGCTG
Long Flanking Sequence:
GCATAAGAAATAGCATTTATTAGGCAGTTAATGTCAATTATTATGTTCATCAGAAAATTTCTGATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAGCGATTTTACTTTTCCCTCATTCAAATTGGTCTTGTATGCTGTTAATAGCTGTCCAGAGACAGTGCAATTGTAGCCTTGTTTAACCTTAATATGTTATGTGTTGTGTATTCTTAAAAGCTGTTCTTCTAATATTTGTTTTGCTACAGTTATGCTGATATGGATGGTCAAAACAGACACAGAGCTATAACAGGCTCCTTGCCCCATGCTTACGCTCTGACTCTGTTTGAGGATTTGGTGTACTGGACTGACTGGAATACCCACACCATAGAGCGAGCTCACAAGTACACAGGCGCTAACCGTGTTGTAATGGGCAACAACACACATCGCCCTAATGACATTCATATCTATCACCCTTACAGACAGCCACACAG[T/A]AAGACAGCATATTATTTAGTTCACCATTAACTTCAATTGTTTGATAGCTGTTTGGATAATTAATTAATATATTCTTAGGTGAAAATCCATGCAATGACCATTACCTGACCTGTAGTCACCTGTGTCTGATTGGTCCGGGTGGGACGGAGGCCAGATGTGAATGTCCGGACCACTTCATTGGTCTGGCTATCGGATTTAAGATTCAGTGTGTGGCCGACTGCTCCAGCACTCAGTTCCGCTGTGGAGACAATGAGAAGTATGTGAATTAATTATCTCATGATTTCCCAGGGTATTTAATTAATCTTATAAAAATGCTAGTGTAAGAATGGTGTTTTAACTACTGCGGTTCCAACTGTAATTCTTCCGAATGACTAAAAAGTAATCAGTATGATGGTGAAAAACTGTACATTTCTAGTCAAACCATGCTTCTGGAATTAATAGCTTAAAATGTGGGAGAGTGTTGCTATTAAGTGATTGTTTTGTATTGGAATATGGAGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17806
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 |
---|---|---|---|---|---|
ENSDART00000079326 | Essential Splice Site | 3494 | 4409 | 53 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17256863)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16136573 |
GRCz11 | 12 | 16185383 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGTGGCCGACTGCTCCAGCACTCAGTTCCGCTGTGGAGACAATGAGAA[G/T]TATGTGAATTMATTMTCTCATGATTTCCCAGGGTATTTAATTAATCTWAT
Long Flanking Sequence:
ATATTTGTTTTGCTACAGTTATGCTGATATGGATGGTCAAAACAGACACAGAGCTATAACAGGCTCCTTGCCCCATGCTTACGCTCTGACTCTGTTTGAGGATTTGGTGTACTGGACTGACTGGAATACCCACACCATAGAGCGAGCTCACAAGTACACAGGCGCTAACCGTGTTGTAATGGGCAACAACACACATCGCCCTAATGACATTCATATCTATCACCCTTACAGACAGCCACACAGTAAGACAGCATATTATTTAGTTCACCATTAACTTCAATTGTTTGATAGCTGTTTGGATAATTAATTAATATATTCTTAGGTGAAAATCCATGCAATGACCATTACCTGACCTGTAGTCACCTGTGTCTGATTGGTCCGGGTGGGACGGAGGCCAGATGTGAATGTCCGGACCACTTCATTGGTCTGGCTATCGGATTTAAGATTCAGTGTGTGGCCGACTGCTCCAGCACTCAGTTCCGCTGTGGAGACAATGAGAA[G/T]TATGTGAATTAATTATCTCATGATTTCCCAGGGTATTTAATTAATCTTATAAAAATGCTAGTGTAAGAATGGTGTTTTAACTACTGCGGTTCCAACTGTAATTCTTCCGAATGACTAAAAAGTAATCAGTATGATGGTGAAAAACTGTACATTTCTAGTCAAACCATGCTTCTGGAATTAATAGCTTAAAATGTGGGAGAGTGTTGCTATTAAGTGATTGTTTTGTATTGGAATATGGAGCAATTAAGTGTTGATGTTAAATCAAAAGTCATTCACAAATACTTGAAAATGAAATGGTTTGATGACAATAATTATCTATGGTTACAACTGAATTAATTACAAAATAACAGTATAAAATAATTAAATATGAAGTGATAAAAACATGCAATAATAATTGTACTCGGCTTGAATGTAAAATAAAGTTACCAGAGAGGGAAGAAGAGTCTAAGCCTGATAGTAGTACAGCCAGATAAGATCTGGAGTGGTGCAGAACTGGAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1015
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:
T > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079326 | Splice Site, Nonsense | 3684 | 4409 | 56 | 73 |
Genomic Location (Zv9):
Chromosome 12 (position 17262033)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 16141743 |
GRCz11 | 12 | 16190553 |
KASP Assay ID:
554-0919.1 (used for ordering genotyping assays)
KASP Sequence:
GTGTGTGATGGCACCAATGATTGTCTAGACAACAGTGATGAGAACACCTG[T/A]CGTGAGTCCTATAGAATGATTTCAATTGATTCAAAAAAGGTTGGACAGAA
Long Flanking Sequence:
TTCTTGGATTAACAGTTGTTTCTCTAAAAACTTCTTTCATTATCCAGGTGACCACCGTTGCACTGAGAACCAGTTCCAGTGTAAAAATAAGCATTGTATTCCCATAACTTGGCACTGTGATGGTGTGGTGGACTGTTCAGATGGCAGTGATGAGGAAACGGACAGTTGCATAGACAAGACCTGTAAACCTGGACAGTTTCAATGCAAAAAAGGAGGCTGCATACCACAAAGTTATGTGTGTGATGCACAGAACGACTGTGGAGATAATTCAGATGAGCCATATGAAGTGTGCAGTGAGTGTCTCTTTAGAAAAAATTACTTTTCTTTAGCTACTTGGAGTTAACTGATCTTTTTTCTCAATCTGTTTTTGTAGTGGGTCCTGACTATAAGTGTGATCCAGACACCGAGTTCCCCTGCAAAGGAAACTATCGTTGTATACCTCTATGGGCTGTGTGTGATGGCACCAATGATTGTCTAGACAACAGTGATGAGAACACCTG[T/A]CGTGAGTCCTATAGAATGATTTCAATTGATTCAAAAAAGGTTGGACAGAAACATTAACAGAAACAAATACAGAAATGAACATCTAAAGAAGAAGAATACGAACTATACTCTACGAACATACCTTCAAATGTTTTCTTGTTAACGGGATAGTTCACACAAAAATGAAAAATTACTCACTATTTTCTCACCCTGAAGTGGTTTAAAACCTTTGAGTGTCTTTACTCTGTTGAACACAGAAGAAAATATTTTGAAGAAAGTTCAAACCTGTATCCATTGACTTCCATAGTAGGGAAAACTAATTTAATGTTTACAGATGGCTTTTTAAAATATCTGCTATTGTGTTCAGTAGGATAAAGAATCTCTGTTTGAAACAAGTAAAGGGTGAGTATATAATGGCAGAATTTTCAGTTTGGTTGAACTATTTGTTTAATCAACAGGGCTTGACCTTAACACCCACCATCCCGCCAAATAGGGGTAGATTTTAGCTGTGGCGGGCTAGA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |