ZMP
PKD1
Ensembl ID:
Description:
polycystic kidney disease 1 (autosomal dominant) [Source:HGNC Symbol;Acc:9008]
Human Orthologue:
PKD1
Human Description:
polycystic kidney disease 1 (autosomal dominant) [Source:HGNC Symbol;Acc:9008]
Mouse Orthologue:
Pkd1
Mouse Description:
polycystic kidney disease 1 homolog Gene [Source:MGI Symbol;Acc:MGI:97603]
Alleles
There are 14 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32782 | Essential Splice Site | Available for shipment | Available now |
sa19615 | Essential Splice Site | Available for shipment | Available now |
sa32781 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa31236 | Nonsense | Available for shipment | Available now |
sa14458 | Nonsense | Available for shipment | Available now |
sa19614 | Nonsense | Available for shipment | Available now |
sa16772 | Nonsense | Available for shipment | Available now |
sa39705 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa19613 | Essential Splice Site | Available for shipment | Available now |
sa9766 | Nonsense | Available for shipment | Available now |
sa44516 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa10689 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32782
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Essential Splice Site | 434 | 4281 | 13 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54923564)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53696093 |
GRCz11 | 1 | 54376118 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTGATGTGCTGCCGGTGAGGAGGGCTCCAGGGATCGGGGTCTCTTCA[G/A]CCGGGGAACGTGTGTGTGTCTCTGGACGGCGGCGCGCAACCCAGCATACA
Long Flanking Sequence:
CTGGAAGAGCATCCGCTGTGTAAAACATATGTTGGAACACTGGATACACACACACACATAAGGAGAGAGATACACACTCACACACACATGGTCTTATGTAAGAATACACACATGAACGCAACACTTTTTATTGTTTCTTTTTTTGTTCTCTGTCTTTTCCTTTTTTTTCATTTTTGTAGTTTTCACAGATGTGAGATGTGGGGCTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTTTAGGGAGCTTGGTCTGTGTATGGGTCTCTGTGAATGTATTCGTGTATTTTTTTCCCCATGTTTTCTGATATTGTGTGCATGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATGTGTGTTCAGGGAGCTTGGTGTTTGGCTGGTTCTGAGTGATCAGTCTTCTCCCCATGTGTTCCGCTGGCTGGACGGCTCTGATGTGCTGCCGGTGAGGAGGGCTCCAGGGATCGGGGTCTCTTCA[G/A]CCGGGGAACGTGTGTGTGTCTCTGGACGGCGGCGCGCAACCCAGCATACACTCCTGCACCGCCAAACGAGCATTCATCTGCCAGTTCACACGTCACGGTAAACAGCAGACGCACACATCACCGCAGCTCTCCAAGACTAAAGACACACAAATGAACAATGTGGGTGTAGATGCTCTCAAACTGCAGCTCGATATGCTTCAGGCTACTCATCAGAGAAACTGGCTAAGCTCCTGTCACACTACACTTTCAGAAAAGAAGTTACTTCCTAAAATCAACTTCAAGTTACGTCCACTCATAGTTAATTGCTAAATGTAGTTAGCTACTCTACACTGTATTTCCTAAAAGGAGCTAGCTACTAGTTATTTGCTAAAATCAACTAGCTATACCACTTGCTTAAAGTAGTTGGCTGCACTACAAGTTACTTCCTTAAAGTTTTTTGCTACACTTCATGCTACTTGCTAAAAGGACCAAGTTACACTACATGTTTGCTAAAATTAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19615
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Essential Splice Site | 631 | 4281 | 16 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54918579)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53691108 |
GRCz11 | 1 | 54371144 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACGAGGTGCTGATCTCACTGCCAGCCGGACCAGCAGCCAGCGTCCTGG[T/C]GAGTCAGAAACACAACTAAACTAAACTAAACTAAACTAAACTCTAAACTA
Long Flanking Sequence:
GACATACACACACTGCTGCCAAGTGCACACACATATCACATGTCAGATACACACAAACACACACATACTGTATGCACACGAACACACACACACAAACACACACTCCTGCCAGGTACACACACACACACCCACACACAAATACACATACACACGATTGCTTTTCTCAGGCTGTATGTTCTTCTGTTGTGTTTGTGTGTGTGTGTGATGTGCTGCTGTATTTTCAGCTTGCGGTGAGCTCTGCGCCCCCATCAGCGTCTGCCAGGCTCCAGATGAGTGGATGAACAGCACTGAAGCTCCAGCGGCTCCAGGGTGTCCAGCAGAGCGCCACTTCTGCCCCTTCTCTGAACGCTGTGTTTCTCTGTCCAGCCCCTGTCCCAGCAGCGCTTGCTTCAACTGCTCCGGGGTCAGTCCTCCGCCCGCGGGCACACAATACCCAGAGTACAGCCTGCTGGACGAGGTGCTGATCTCACTGCCAGCCGGACCAGCAGCCAGCGTCCTGG[T/C]GAGTCAGAAACACAACTAAACTAAACTAAACTAAACTAAACTCTAAACTAATCTCTAAATTAAATTAAACTAAACTAAACTAAACTAAACTTAACTATAAACTAAACTAAACACAACTAAACTTAACTATAAACTAAACTAAACTAAACTAAACAAAGCTAAACTAAACTAAACTAAACTAAACTCTAAACTAATCTCTAAATTAAATTAAACTAAACTAAACTAAACTTAACTATAAACTAAACTAAACACAACTAAACTTAACTATAAACTAAACTAAACTAAACAAAGCTAAGCTAAAATAAAATAAAATAAATTATTAAATAAAATAAAATATAAAATAAAATACACAATAAAGCAAATTATAAAATAAAATATAATATAAAATAATAAATGAAATAAGATATAATTTAAAATAAATTACCATAAAATATAAAATAAAAAAAGAAATGATAAAATAAAATAAAATATATAGGATAAAATAAAATAAAATTTAAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32781
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 729 | 4281 | 18 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54914671)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53687200 |
GRCz11 | 1 | 54367264 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACCACAATATATTGAATTATTGATATATATATATGTCTTCCCACAGGTT[G/T]GAGATTACAGTTTAGAAGTGACGTCCAACGATGAGGATTTTCCCGTCACT
Long Flanking Sequence:
CCCTGTACTAAAATGGCGGCTCTACTGATGCATTCCTTCCAATAGACAACAACAGGATAGGCGACATCTAATGTATATATCTATAGTCTGAGGCTATGTGTGTGTGTGTATTAACTAATGTTTACCATTGCAACAATATTGGACAGTGTTAATGTACAACAGCCCTATCAATTGTGACATAATTTTTAATTATGTATTTTATTATGTGTTTTAATTAAGTATTATAGCATGCCCAGATTAACATTTGAAAATGTTTGAACTATTAAGCTAATTAACCAATAAAATCTCCAAGCATTTGACGCTGTACTGAACAACACCACTGCAAATACAATTCTTAATTCAATCAATTAAATTCTGAATATTCTTAAAAATCACTCTAAAGGTTTAAATAATCAATAATTATTTACAGTATTTTGAAGAGCCCACAATAACGTCATTGTGCATGTTTATTACCACAATATATTGAATTATTGATATATATATATGTCTTCCCACAGGTT[G/T]GAGATTACAGTTTAGAAGTGACGTCCAACGATGAGGATTTTCCCGTCACTGCATCCTGCCCGATTCAAGTCATCCCGCCACTGACGCCAACTGTAATCCATCCGACAAATCACAACAACACTGTGTACTTCCTGCCCAATCAGACGTGGGTTCTCATTAAAGTGCGCTCTCAGCACAGTGCTCTGATTGGCTGTCAGGGCAACAATCTGACTGTGGCATTTGAAAGGGCGTGTCCTCAGAGTCTGCTGTCGAAGGTGGCCGAGTGCAGGCAGTCCGACCCATTCAATGACACCATGTTTGCCTGGGTTGACCTGCAGGCTGGATCTACGCCAGGACAGACCACCGTTGTGCTTCATGTCAAGAGTGAAGTCACTGAGGCCTATCTGCAGATTCAGGCCAGAGTTCAAGAGCCACTGCGAGGACTGCTCATACAACCACATCCTGCGCACAGAGTCCTGATGGAGTCCGTAGTGGTAAGTGACATCTGTCCTGATGAATAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31236
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 1234 | 4281 | 22 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54905034)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53677563 |
GRCz11 | 1 | 54357647 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTG[C/A]ATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGC
Long Flanking Sequence:
CTGCGTGCCGAAAAACCAGCTGACTTTGAGGCCCACCCTCTTCCTTCTCCATATGGCATCATATACACCTGGAATTTTGGGGACAATTCGAGTATACAGCAGGGACGGGAACGCAGGGTTCCTCACGCATACACTCACAGTGGTATCTACAACATCTGTGTGAATGTGAACAACAGCATTAGCTCAACAGACACATGCGCTAACATTATTGTCTATGAGGATATTAAGGGCTTGGAAGTAATGTCCTCTGCTCCCACAGAACACAACACACCTACTGTTATCAGAGCTAGTCTGGAAGCTGGCAATAACGTAACTTGGAGCTTTGACATGGGTGATGGAAAGGTGCACAAGAGTGTTGAACCCCAGATTAAATACAAGTATAGGGAAGATGGAAACTACACTGTCAATGTCACCGCAGAGAACGCAGTGAGCTCTCAGTGGCTGACCATACCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTG[C/A]ATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTATGTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATACAGCAATCAGTTGGACTTTTGTTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14458
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 1279 | 4281 | 22 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54904899)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53677428 |
GRCz11 | 1 | 54357512 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGRAGCCCCAATGAGACTCAGKATGGGACGCCGCTKATWACCCACTCGTA[T/A]GTYAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAA
Long Flanking Sequence:
CACAGTGGTATCTACAACATCTGTGTGAATGTGAACAACAGCATTAGCTCAACAGACACATGCGCTAACATTATTGTCTATGAGGATATTAAGGGCTTGGAAGTAATGTCCTCTGCTCCCACAGAACACAACACACCTACTGTTATCAGAGCTAGTCTGGAAGCTGGCAATAACGTAACTTGGAGCTTTGACATGGGTGATGGAAAGGTGCACAAGAGTGTTGAACCCCAGATTAAATACAAGTATAGGGAAGATGGAAACTACACTGTCAATGTCACCGCAGAGAACGCAGTGAGCTCTCAGTGGCTGACCATACCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTGCATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTA[T/A]GTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATACAGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAACCATCTTTCTTTACACCAAGAGTACAATTTCAAAGCGTCCTCAGATTCGATGAATGCTGTCTACATTTGGGACTTTGGAGATGGGACTCAATGTAATGGGAAAATTGTGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19614
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 1393 | 4281 | 22 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54904559)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53677088 |
GRCz11 | 1 | 54357172 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATA[C/T]AGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAAC
Long Flanking Sequence:
TGTTATCGCTAGAACCTACCGGGTGCATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTATGTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATA[C/T]AGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAACCATCTTTCTTTACACCAAGAGTACAATTTCAAAGCGTCCTCAGATTCGATGAATGCTGTCTACATTTGGGACTTTGGAGATGGGACTCAATGTAATGGGAAAATTGTGTCACATTCTTACAATTCTTCAGGCAGGTTCAGCATCAGTGTCATAGGGAAGAATGAAGTGAGCAAGACCAAAAATGAGACTTCTGTTGTGGTCCTGGCACCAATCACGAGACTGTCTATAAATGCCAGCCTTGTCAATGTACCATTGAATGCTTCTGTGCACTTCGAGGCACAACTCGACCAAGGAGATGATGTACGATACTCTTGGATTCTTTGTGACCGGTGCAAGTCCATCCAAGGCACTCACACCATGTTCTACACATTTCTATCTGTCGGGACCTTCAATGTCATTGTTACCGCAGAGAATGCTATCAGCATGGCTCAGTCCAGCATTTTCATCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16772
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 1988 | 4281 | 22 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54902774)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53675303 |
GRCz11 | 1 | 54355387 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTGAGAGCGTTCAATTCTCTGAATGGTCTWAATGTAACTAAGGTTATA[C/T]RAGTTCAGAGCATTATCAGRTCAGCATTGTTGGATGCTCAACCTAGTGAC
Long Flanking Sequence:
GCATCCAGGGTCTGGAACTCAAGGCAAGCAAACAAATTGCTGCCGTTGGTGAAAATGTTGAGTTCACCATATCAGTCTCATCTGGAACTTCCGTCAGCTTTATCCTGAGCATTAGTGGAGATGCAACCGTCGTACTAAACAATCTAACATACGTCCACCAGTTCACCAGTGTTGCCAAGTACTATGTCAACCTTACTGCCTACAACCACGTGAGTTCAGAACGAAGGACCCTTCACATTGAAGTGATGGAGCCTGTGACCAAGCTGACTATACTAGACTGCTGTGATGCTGCTATACCTGTGGGAGTTCCTAGGTCTTACGTAGCATCCACACCAACACGTGAGCCACTGACCATCCTTTGGACCTTTGACCTTCATCATGGTTTCAAGATTTCTCGGGTTGGCAAGTCTATGACATATGCCCCAGAGCAGCCAGGCAATCTGACCATATTCCTGAGAGCGTTCAATTCTCTGAATGGTCTAAATGTAACTAAGGTTATA[C/T]AAGTTCAGAGCATTATCAGATCAGCATTGTTGGATGCTCAACCTAGTGACACTTTTGTAAACAAGACTGTTAACTTCCATGTAGGCATAACCCCTGCTTCAACTCCAGCTACATATCAGTGGGACTTTGGGGATGGTACTTCTGGCACTATCACCACTGCACCTTTTCATAATCATGTCTACTTGATTCCTGGACACTATGTAGTGCGAGTCAATGTAAGTAACCTGGTGAGCTGGGTTACAGCACAGATTGAGGTCAACATCTCAGTCTTAAAGTGCGATGAACCAGAGGTGCAGATCATTCAAGCTCCACGACTTGCCATCTGGCGGCATCAACCAACTTTGGTAGAAGCCAGTGTGAATCTGAAAGGTTGTGTCCTCTATGGTGTAGAGTACCTTTGGGAGATCCTCACCTCCCCTCGCTGTCAGGATGATGACAAGAAAGGTCCACCACCGTCTAAGATTCAACTCCCTCCAGAAGTCAATGTTCGAAGGCTCCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39705
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 2908 | 4281 | 32 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54881471)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53653897 |
GRCz11 | 1 | 54334061 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAGATACTCCAGACTCGTGGATCACAGCCTATCTGGACACCTCTGAATG[G/A]CCCAATGAATTCAACAGCACTGACAGGAAACGCATCACGCTCAACATGAC
Long Flanking Sequence:
CGAGCCATTGACTGCAGAATTGCTCTGAACAGTTTATTTAAATCAGTGATTTATTAACTAGAGACTTATTCTGAACAATTCATTTGAATCAGTGAGTCATTAACTGCAGCCTACCGCTGAACAAATCTTTTGAATCAGCGAGTCAGTAACTTCAGGCTCCCTTTAAACAGTTTATTGGTATCAGTGAGTCATTAATTGCAGACTCACTCTGAACAATTCATTTGAATCAGTGAGTCGTTAACTGCAGACTTTCCCTGAACAGTTTATTTGAATCAGTGAGTCATTAACTGCAGATTCTTCTTTGAACAGTTCATAGGTGTCTAAAAATTAGAAAAAGGAACAAACACAATTTCATGATTATGCATCTATGATCATATTTTACTAGTTTTATTTGAGTAGTTCTTATATTTAGGTAACTTTTTACAGTAGTTTGCGTTCATCATGTGTTTCTTAGATACTCCAGACTCGTGGATCACAGCCTATCTGGACACCTCTGAATG[G/A]CCCAATGAATTCAACAGCACTGACAGGAAACGCATCACGCTCAACATGACAAGAAGGCCGGACCTTCATCACCGTGACTACACCTTCTTCCTTTCTCCAAAGTAAGAGATGTCCTGAATATGTTTTCTGACAATTCTTTCTGTTTTTTGCAGTTGTTCACTGTAGACTCACTCTGAACGGATCATTTAAATAATTGAATCATTTGAATCAGCCATTTGAATTTGCATACTTGCTTTGAATGGATCATTTGAATCTGTGAGTCGTTAACTGCAGACTTATTCTGACTGGATGTTTTGAATCGAAGAGTCGCTGACTGTAGATTGGCTCTGAACAAATAATATGAATCAGTGAGTCATTAGCATCAGCCTCACTCTGAACAAATAATCTGAATCAGTGAGTCATTAGCATCAGCCTCTATCTGAACAAAAATATGAATCAGTGAGTCATTAACTTCAGCCTTCCTCTGAACAGATCATCTGAATCAGTGATTCGTTAACTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19613
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Essential Splice Site | 3029 | 4281 | 33 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54879725)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53652151 |
GRCz11 | 1 | 54332315 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCTGCCAGCCTGTTCGTCCCGCCAGACGCCGTCTCCTTCATCATTCCTG[T/C]GAGCATATACTGCTGCAACATTTTCAACAATTTACAGCATTAAATGATCA
Long Flanking Sequence:
AATGAGTCATTTGAATAAGTAAGGCATTAATTGGAGACTTGCTTTGAACAGATTTTTTGAATCAGTGAGTCGTTAGCGGCAGACTCACTATGAACAGATTATTTGAATCAATGAGTCATTAACTAGATTAATTAGATAGATAACTTACTGAAATGAAGTGGAGCTCTACCATGTAGCATGTGAAAGTGTCCTAAAATAAAATGTGTGCTGATGTTGTTGTGTGCCCTCTTCTTTCAGTGTGTACGACACCACGCAGGATCACTTCATCAACGTGTCGTCAGGCTGTGGCACTGCAGAACCAGAGCTCCTGCGTCTGGAAGTGGCCGTCTTCACGTCTCTGTGTCAGTACTTTAGTGAAAGTGCCAAACAATGGCGGACGGATGGCATGGAGCCGCTCGCAGAGACCAGCGTGGGTCAAGCCGTGTGCCGCACCCATCACCTCACCGCATTCGCTGCCAGCCTGTTCGTCCCGCCAGACGCCGTCTCCTTCATCATTCCTG[T/C]GAGCATATACTGCTGCAACATTTTCAACAATTTACAGCATTAAATGATCATTTTACCTCTTCAGATACTGATTCTTTAACCAATATCTTTAAGTTCATAGCAAAAAATAACCTCCAAAATATCTTAGAGTGAGTCATTTGAATCAGTGAGGCAATATATATAGATTTCAATAATTTAATCATTTAAATGAGAGTTATTACCTGAAGACTCACTCGATAGGATCATTTGAATCAGTGAATCGTTAACTGCATACTTATTCTGAAAGGATCACTTGAATAAGTGAATCATTTGAATCAGTGAATCATTAACTGCAGACTCGCTCTGAACAGATCGTTTGAATAAGTGAGTCTTTCGTATCAGTGAGTGGTTAACTGCAGACTCATTTCATGCTATCAAGAATAATTTAAATTAGTGATTAATTTGAATCAGTGAGTCATTACTGCAGACTCTGAAAGGATCATTTGAATCAGTGAGTCATTTGATTAAGTGAGTTTGTAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9766
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 3748 | 4281 | 50 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54843847)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53615314 |
GRCz11 | 1 | 54295478 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGACACTCTNNGACCCTCGCTGTCCTCCAGAATGCCCCGTCAGTGGATA[T/A]TTCCCAGYATCCTCTYGGTTTGGGTGTGTCCAGGCCGGGTGGGCSGAGTC
Long Flanking Sequence:
GCTAATACTGCTCCATCAAAAGACATTTAACTGACTATAAGACACTTTGCAAGTACATGTCAACTTACTTATCTAAACCCAACCCTAACCTAACAGTCTACTTATAATCTATTGAGAATTAGTTGGCATGTAGATGCAATGTAACTTCAATTCAACAAACGGACCATCAAAATAAAGTGTGATCAAAAACTCTTTTACACTGGCCAACAGAGCACTTTTACCTGTATTTTTATGACATTTTATTGATGTAAAAAGTCTTAAATTTGACTTGACTTTTGACTTTTCTGAAACCCTGAAACCATATCGGTAAAATGGCTAATTTTATCATTTTTTTGAGAGGTCAGGATGAAATTTTCTTTCTTAAAAATGTTTAACGCAATGAAGAGACGAATGAGCTATATGCACATGTGTTTATAAAACTAATAATAAAATGCAGAATCTCTTCACCTTATGACACTCTCTGACCCTCGCTGTCCTCCAGAATGCCCCGTCAGTGGATA[T/A]TTCCCAGCATCCTCTTGGTTTGGGTGTGTCCAGGCCGGGTGGGCCGAGTCAGCATCCGGATTGGTGCAGAACTGGAGCGTCAGTACAGCTCAGAGCAGCGGGTGAGAGTCACATGACCAGATAGTAAACTCATCAGATATAGAGAAATCTGACTGAAAGTATAAATACAGTTAAATTTTTCTTGTTTTTTTTTTCCAAATCTTTCCCAAATGATGTTTCATAGATTCAGGAAATTTTCACAGTATTTTCTATAATATTTTTTCTTCTGGAGAAAGTCTGGTTTGTTTTATTTCGGCTAAAATAAAAGCAGTTTTAAATTTTTTTAAAATCATTTAAGGTCAATATTATTAGCCCCTTTAAGCTATATGTTTTTCAAATGTCTACAGAACAAACCACTGTTATACAATGACTTGTCTAATTACCCCAGTTAAGCCTTTAAATGTCACTCAATACTACAGGGTGTTTGCAGGGTCTTAAAAAGTCTTACATTTAAAAAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44516
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 |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 3885 | 4281 | 53 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54837543)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53609723 |
GRCz11 | 1 | 54289887 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCCCACAGCTCATCCTGCTGGTGTTGCTCATCTATTTCTCCGTTCGT[G/T]AGGGTTTGCTGGTCTGGAAACAGGGCCGCTGCTACTTCCTGCGCGTGTGG
Long Flanking Sequence:
GCGTGGCTTGTTATTCTACCGTGAGCTGATTGGATGTAATAGAATTGGCATTTCATTCAGAAAGAAGGGCAAAAGGGTTTGAGGAGTTATTACAACCTAACAGACTCCGCCTGCTCAGCATTTCTGTGTGTTGTCAAAACTGACAGCTGGAGGGGTGTGGTTAAGTATGTTAGCCACGCCCAATACCTCAGACAGACCTAATCTGAGATCCTAACCGAAAATAAAAAGGAAGCTTATTTTCAAAAGAGCAAACGCTACTTTTTGTTCTTAATGACATGCACTGATCAATTGTTCTGCACAAAACTAGCGATGTGAGCTAACAAAATCAGTACGGTTAGTTTTAATTTGATGTGTACTTTACCTCTAGGAGAGCTGTGAAATGTGGGGATTTTCAAAATTACCGAAGTTTGTTTGTAGTGTTATGAAGACAGAGGTCATTAAACTCTTTCCGTCTCCCACAGCTCATCCTGCTGGTGTTGCTCATCTATTTCTCCGTTCGT[G/T]AGGGTTTGCTGGTCTGGAAACAGGGCCGCTGCTACTTCCTGCGCGTGTGGAATTTAGCCAGCGTCTGCAGTCTGCTGCTGGCCGTCTGCGTAGCCTCTTTACACCTGAGCCGCTCTGTTGTGTCCGCGCAGCAGTGGAGAGCCTTCCTCCAGCACAGAGACGCCTTCACAGACTTCTTTCCTCTGGCCCAGCAGAACCAGCTTTTGACCCAGATGAGCGCCACTCTGCTCTTCCTGCTGGTGCTCAAGGTGAAACTGGGATTTTACGTTTTTGACCGTCACTTTAGCTTCGATTTGAATGTGGCAAACGTATAAGGTGTTTATAAGTTGTGAAATTGTTTTGAGTGTTAGTATGTTGAAGTAGCGATTAGGGATGGGTATTGTTAAGGTTTTAACGGTATTGCTACTTTTATCAATACCGCTTATCGGTTTTGTACTTTAACGGTTCTCTTATCGGTACTTTTTGTAGTGTTTTTTAAGTGAAAAAACAACAACAATTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10689
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000039911 | Nonsense | 4160 | 4281 | 56 | 58 |
Genomic Location (Zv9):
Chromosome 1 (position 54830697)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 53602877 |
GRCz11 | 1 | 54283041 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGCTCCTCCGACTCCCGACAGTGYTGACGGAGGCTCTGAGGCCTCCTG[G/A]CGGCCTACATCCAGCAGCCCCTGCAGTCTGGCTGAAGTTCCTGGTCTGGG
Long Flanking Sequence:
GATGAATGAAGCATACACTAACATACATGTTATTTAGTGCCAAGATTTTGTCCCAAACAGCAGCAACACAGTCTAGCATGTAAATATGGATGTGAATGTATTTATTGAGGGTGTATACTGTGTTATTCAGCGGTTGTTATCTTGAAAAAACATACCCTAAAATGTCATGACTGACCATTCAGAATCAAAAGTATTTCAGACAGCCGTGGAACAATTTCGATTAATCGCCCAGCCCTAAGTACTTCTTACCAACTACAAACTCAGTATGCTCAATCGCCAGTTCATCAGACTCAGTCTTCATCCCAAACCTGTAATTAAAAACCTTGAACCCTTTCTTTTTCCCAACAGTTTCGGCACAAGGTGCGATTTGAAGGTATGGAGCTCCCTCCTTCACGTTCCTCTTCGACGAGTGACTGCAAGTCTTTATGTCTTCCTCCTCTGGACACTCCTGAGGCTCCTCCGACTCCCGACAGTGTTGACGGAGGCTCTGAGGCCTCCTG[G/A]CGGCCTACATCCAGCAGCCCCTGCAGTCTGGCTGAAGTTCCTGGTCTGGGACTCGGCCTCAGCTCAGGCCTTGGGGTGATCGTTGGAGGCCAAGGCTGGAAAGAGAGAGCAGAAATGGAGGCGACACTTCGCAGAGTTCTTCCAGCCTTCGATGCTCTGCTTCTTCAGCTTGACAGGGTCACTCATGCCACAGAGGATCTGTATCGAACAGAGTATCGGATAGAGAGGCTTCTGAGGAAGAGCAGAGGACAGGAAAGAGCAAGAAGTAGAAGCCGTAGAAGTTTAGATAATGCAGGACAGAGGAGACATAAACACAGGAGCACAGAAGTCTCAGAGAGTAGCAGGAGTCCCCTGAGAACTGAAATAAGTGACAGAAATCTTCATAAGAGTGACCGAAGATCAAGGAAAACAGACTCGAGAAAGTTTTCAAAAATCACCAGTGTTCTTTCCAAAAGTCTCAATAAAGGAGACTCGAGTCCCCACAGGGAGAACAGTCTGCA
Associated Phenotype:
Not determined