ZMP
pkd2
Ensembl ID:
ZFIN ID:
Description:
polycystin-2 [Source:RefSeq peptide;Acc:NP_001002310]
Human Orthologue:
PKD2
Human Description:
polycystic kidney disease 2 (autosomal dominant) [Source:HGNC Symbol;Acc:9009]
Mouse Orthologue:
Pkd2
Mouse Description:
polycystic kidney disease 2 Gene [Source:MGI Symbol;Acc:MGI:1099818]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18074 | Essential Splice Site | Available for shipment | Available now |
sa18283 | Nonsense | Available for shipment | Available now |
sa38295 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa18074
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000020412 | Essential Splice Site | 135 | 904 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 51046742)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 49895833 |
GRCz11 | 1 | 50539659 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCACAAGAGCACCGCAGCTGTGGGAAGAGGATACTGGAGAAAATGAGAGG[T/G]CAAACTTTTGCTTGTWTTGTYTTATTRAAGTGCTACTNNNNNAASCATTGTTACG
Long Flanking Sequence:
AATCGCTTTGCGCATTTTCGCATTAAGACAGAGTAAAAAGCGACTAAAATGCAGTCGTTTGTTTATATTAATGTAATGTTACTGTAGAAATACACGATGAGCTCCAGTCGCGTTCGTCCTCAAGCGCCGCAGAGCCCGGCGGCATCTGCATCCGCATCTCCTCCACCGCATGAAGGCATCGAGATGGAAAAAATGCATCATGAAGAAGTGGGCCTCGGAGTGCCCGATGAGACCCCCTCCTCTCCGCCAACCTCCAGCTCCAGACAGGCATGGAGCCGGGACAACCCAGGGTTCGAGCCGGAGGAGGGGATGATGGAGGCGGACTGGCCCCCGGAGAGTCAGGGCCGGAGGTCTGTGTCCACGACGTCCAGCAGCAGCAGCGGCGGCGTCCCGGGGAACTTCTCCGGTATCAGTGCGCGGATCAACAGAGGACTTTACCCGACTCCTCCAGCACAAGAGCACCGCAGCTGTGGGAAGAGGATACTGGAGAAAATGAGAGG[T/G]CAAACTTTTGCTTGTATTGTCTTATTGAAGTGCTACTAACCATTGTTACGAGTATTTAAAGGGATAGTTCACCGAAAAATGAAAATTCTGTTAGCATTAACTCACCCAATACTTGTTTCAAACCTGTAGGAGTTTCTTTCCTCTGTTAAACAAAATAGAAGATATTCTGAAAAAATGCTGAAAACCACTGCCATAGTATTTTTTATACTATGTTTGTAATCACAAGTTATGAGCTTTAAAATAGTGTTCAACAACTATGACAACTGAAAAAAAACTGCATTGGAAGTCAATGGTTACAGGTTTTTAGGATTTTTTTAAAATTAATACAGGTTTGAAAGTACTTGAGCGTAAGTAAATAGTGAGTAAATTCTTGTATTTTGGGTGAACTATATCTTTAATTCCTTAAACAACTAGCTTTGAAAGATAATTTGTGGTAAGTTTAAAATGCAAACAATAAATCACTTTACAAATGAAGTTTACTACAGTATATACTAAAACAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18283
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 |
---|---|---|---|---|---|
ENSDART00000020412 | Nonsense | 153 | 904 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 51048317)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 49897408 |
GRCz11 | 1 | 50541234 |
KASP Assay ID:
2259-1099.1 (used for ordering genotyping assays)
KASP Sequence:
GTGGGATACTCGTCTTTTGGGTGAGAGCAACAGTAACAGAGAGATGTACT[T/A]GAAAACSGTCCTGCGAGAAATGATCACCTACATCCTCTTCCTGCTCACCC
Long Flanking Sequence:
CTTATTATTAAAACAGCTATCATAGCATAACTATCATAACAGCTCTTTTTGGATTCTCGGAAGCTATAGAAATTAAAAATGTATAACAGCAAATACGTTGGGACTATTGTTTTTGTTCACATCCCTCAAAATGGTCTAAGCATATTTCATATTTTAAATATTGATTATTCATTGCATGCATCTGAACTAAATATTTTTAAAATAAATTTGTTTAAATGTACCCATGTCTAACTTGTATTGTAGATTGTATCCTACAGATGTCAGAAACTAAATTTATTTTTGTTAATTTACCATTAGCCTGCACATTCAATCTGTAAAAGATATATTTTAAAGGCATTAGAAAATCTGATAAACCATAAACATTTAAAGTTAGAGTGTGATTTTTTTTATATAGTCACTGATAAAAAATTGACAATTTTAACTGACATCTAATTTCTCTATTTCAGTGTTGTGGGATACTCGTCTTTTGGGTGAGAGCAACAGTAACAGAGAGATGTACT[T/A]GAAAACCGTCCTGCGAGAAATGATCACCTACATCCTCTTCCTGCTCACCCTCTGCATAAGTAGGTTGAAAACTACATGATAGAGTGATACCAGGCTCAAATTACACAACAACAGCTTCACGATTTCTTTATGATAGTGTCATTAAAGTGTCATTTTTCTCATTAAAGGTTCTGTGAAATTAAAATAATATATTTTTTTTTTAGATGTTTGAATCAGTATGTTAGTTTTAGGATATCTTTAAGCTAGTTGTGGATTTCTTCAGATGAGCAGTGCGATCTGATGAAGCAATATTTAGAGGTGAACTCGTTCCTTTCGAGTGCGCATGCGCATTAGATGCCAATTTTGCTTGATTAGAACGTTTAGAAAGGAAACTTATGAGACAGTTGTTGTTTAATTTTATTATTGTAATGTAATTGGCAAACAGTTTTAGAGAATTTGATGTTTTCTTTATTTAGACAGAATGCTTGACTATACTGCCCGAGAGGCATTTCAACGATGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38295
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000020412 | Nonsense | 714 | 904 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 51058499)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 49907590 |
GRCz11 | 1 | 50551416 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAGTATGACCTTGACGGAGATCAGGAGCTGACCGAACATGAGCACCAG[C/T]AGATGAGAGACGACCTGGAGAAAGAGAGAGTGAGTGAAAAACCAGTGCTA
Long Flanking Sequence:
CCTATAAATCACCGCAAACCCCCGACACCAGCATCCCCCCACCTACGTGCCCAGATCTGCAGTAAATTTGTCAAGTGTTGACTGTCCACGGTGATAAAAAAGTTGGGGACCACTGCTTTTTTTTTTGTTCCATATATAAGCCAGAAGCAAAAATTTGTTATGGAAGTCAATGGGGCAAAATCAGCCCCAAACATAATGAAAGGGTAGACAATTTACCCAGATAGTTTGTAGAATTAAAAAAAAAACATTTGAAAGCATTTTTCTCAAAATATGTGTCAAAATAAGATTTGTCACCAGAACTCATTCCATTTGCTGAAACACAGAGAAAGTTGTGACTCAAAATTTCACCAGAGTGGATGAAAACATCCCCAGCAGCACACAAGGGATAATTGTTATTGATGTTTGTGCACAGAAAGGGCCATTCGGACGCTGAAATTGAAGCTATTTTTGCCAAGTATGACCTTGACGGAGATCAGGAGCTGACCGAACATGAGCACCAG[C/T]AGATGAGAGACGACCTGGAGAAAGAGAGAGTGAGTGAAAAACCAGTGCTAAAAGATGTCACATGATTTGTTTAATTTTTTTTTTAAATACAATTACTAGGAGCTAAGCTCTCTGTTGGCTGAACTGTAGATAATTGCTTTATACACATTCAATGACTATATCTTTCAAATGACAAATTTGTTTATCACTCACATGACTAAATCCGCCATTTGTCATTATCACGTGACCTACCGGCGTCATTTGCGTTGCTTCACTCCCATTTATAAATTCTCTCACGTGGCATGATTGGATAGCATAGCGTCCATCAGATGCGCACTTCAGTATCTCAACAAAAGCAGTAGGTCATCCGGGTACTTCTAGCTGAGCTGTTTTTTGAACACTGTGAAATTCAGACATACTACTCAGCTCACATACTATTTTAAACGTACTATATATTATAAAAGTATGCAGTTTTGGACGCAGCCCATGTCTGTATGAAAAAGATAAGTGTATTGTTCACT
Associated Phenotype:
Not determined