ZMP
ENSDARG00000033029
Ensembl ID:
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 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa35283 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17876 | Nonsense | Available for shipment | Available now |
sa17144 | Nonsense | Available for shipment | Available now |
sa42019 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa27948 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa35283
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 |
---|---|---|---|---|---|
ENSDART00000045361 | Nonsense | 216 | 1253 | 5 | 28 |
Genomic Location (Zv9):
Chromosome 12 (position 23080822)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 21604185 |
GRCz11 | 12 | 21725404 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTTGGGACATCCAGACAGAAAACATGTTCTTCTTCTTGGTGGAAGACT[G/A]GCTCTCAGTGGAGAATGAGAAAAACTCTGGAAGGGTGGAGAAAGTTATAT
Long Flanking Sequence:
GGACTTGAAGATATTTTACATAAAATATATTTACACATTTATACAGTTATAATCAGAATTATTAAACCCCCTTTGATTATTTATTTATTTATTTTTAATATTTCCCAAATTATGTTTAAAAGAGCAAGGTAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGAGAAAGTCTGATGTGTTTTATTTCGGCTAAAATAAAAGCAGTTTTAAATAAAAAAAAAAAAAAACTTTTAGGTCAAAATTATTAACCCCTTTAAGCTATATATTTTTCCGAACAGGCGATTCTCTTTTTTTGAGTTAACATTTCCTTTTTAAAACAACAAATACTGAAAAACATTTGCTATGTGTCATTTTTGATTGAACATTTCCTTTTAAAAACAACAAATCATGAATAAATGCTATGTTTTTCAGGTCTAGACCCATCTTGGTATCTACAACATGTAATAGTTTGGGACATCCAGACAGAAAACATGTTCTTCTTCTTGGTGGAAGACT[G/A]GCTCTCAGTGGAGAATGAGAAAAACTCTGGAAGGGTGGAGAAAGTTATATTAGCATCTTGTAAGTATACACATCCTCTGTGGAGAATTTCATACTTGAATTTCATAACCTTATGATCCCTGTATACTGTAGGCCCTCAGGAGCTGCATCAGTTTAAGAGAATCCTACATTCCCAGTTGCTGTTTGGACTTCAAGAGCACCATCTGTGGATTTCATTATGGGAACGGCCAACACATAGCCGCTTTAGCCGAGCCCAGAGGGTCACCTGCTGCGCCCTCTTATTACATCTCTATCTGGCAGCTGGGGCAGTATGGTATGGAGCAGTGGGCAGAAAGGGCAGCAGGTAATAGGCCTGACCTTCAAAGGCCATAGACAACAGATTGAACTTGTATATTACACTGTAGAATCAGGTAATTACATCTTGTAAAACAAAGCAATTTCTGTTTTTCTCCAAGCTGTAGGCTTTGTTATTGATTAATGCCAAAGGGGAATCATTTTCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17876
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 |
---|---|---|---|---|---|
ENSDART00000045361 | Nonsense | 691 | 1253 | 19 | 28 |
Genomic Location (Zv9):
Chromosome 12 (position 23091239)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 21614602 |
GRCz11 | 12 | 21735821 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCTGTTTAGTGWAYATGCTYTTCCTGTTGGTGGTYCTGATGGTGAACTA[T/A]CAGGAACATRTGCAGATGGCTGACARTAGACGGCTTCAMTCCGCCATTAA
Long Flanking Sequence:
TTTGTGTATTTGAATGACAGTACAAATTAAAGAACACAAAAAATTTTGAAAACATTGCTGTTTTTTTTATACATCAAAACATTATCTTTACTCTTGATGTCAGTTGTCTCTGTCTCCATCTCGGTCTTTCGATGCAGATATGCATTCAGGCACTATACCTGGCTACTGTGGTGCGACCAGTGGATCCCGAGGTGGAGGAGCGTTTGGCTCAGGAGACTGAGGTCAGAAGGTCTGAGGAGGACTTCAGGGATAAGGTGCACCCTCTCTGTGGATACGGCCTACTGCAGGCTAAAGAGGAAGCACGAAAACTGAGGACACTTAGAGCCTTAATGAGGGTGAGCAAAGACCACACACACATTTACTCATCAGAGTCCAAAAAAAAATTGACCATAATGGATGTTAATATTTATTTAAATTTTTTGCCGATTTATGTTTTGTGCTGTTAATCAGAGCTGTTTAGTGTATATGCTCTTCCTGTTGGTGGTTCTGATGGTGAACTA[T/A]CAGGAACATGTGCAGATGGCTGACAGTAGACGGCTTCACTCCGCCATTAAACATACACTGATCTCAGCTTCAGCAGGGAAGCCTGGTCTCATGAAGTTATCAGGGTAAGCCAATTATTCAGTTACACCAGTGTTGTAATGAAACTGATCTTTTTTTTAATGTCCTAGACATCCCAACGATTTATTAAAAATGAAAAAGTAGTATTTTTATGTTTGACTTAAAATTTTTACATTTTTCTTTTTAACGTGCCCCATATTCTTTAAATTAAAGCTGAGCTTGGAAGTCTCCAACAATACATTTGGATCCGTTCAAAAGAATTAATACTAATAATAAAATTGTCTATACTGTACAGCAATGGAAAAAAGAGACCACTTTGAGTTTCCTGGTATTTATGATTAATGTTTATGTGTTTGAGTAAAACAGCATTTTAGTTTTTCTCTGCAAACTACTGATGTCCAGTGTTGAGGAAAGTTACTTTTGAAAGTAATGCATTACAATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17144
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 |
---|---|---|---|---|---|
ENSDART00000045361 | Nonsense | 926 | 1253 | 25 | 28 |
Genomic Location (Zv9):
Chromosome 12 (position 23096182)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 21619545 |
GRCz11 | 12 | 21740764 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCTATTCGCCCTGTRCTTTYTGAGTAYTGAAGTGCGAGCCTTGATCAGR[A/T]AGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTG
Long Flanking Sequence:
GCAGGTTTGGACACCTCTACTACTGAATAAAATGCCCAAGTTCTCTCCATGTCCAGTATTGAACTAAGGACTTTCCTACACACATACACCTGTATTTATCAGTTCCAGAGCTCATCATGCGTATCAGATTAGTGTGTTTAGTAACTGTCTTACATTTTCTCCAACAGTACAAAGGCTGTATTGATCGAGTTCACTCAGTATCATAAACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGG[A/T]AGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTACACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATATTATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42019
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 |
---|---|---|---|---|---|
ENSDART00000045361 | Nonsense | 958 | 1253 | 25 | 28 |
Genomic Location (Zv9):
Chromosome 12 (position 23096280)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 21619643 |
GRCz11 | 12 | 21740862 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTA[C/A]ACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGC
Long Flanking Sequence:
TCAGTTCCAGAGCTCATCATGCGTATCAGATTAGTGTGTTTAGTAACTGTCTTACATTTTCTCCAACAGTACAAAGGCTGTATTGATCGAGTTCACTCAGTATCATAAACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGGAAGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTA[C/A]ACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATATTATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAATGCCAAATCACATGCAATTTTTTAGTTCTACGGTGGGCATTACTAAAATATAATTTTTTTAGGGTATGAAATCAAATGACCAATTTTTTACACATTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27948
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000045361 | Nonsense | 994 | 1253 | 25 | 28 |
Genomic Location (Zv9):
Chromosome 12 (position 23096387)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 21619750 |
GRCz11 | 12 | 21740969 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATAT[T/A]ATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTT
Long Flanking Sequence:
AACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGGAAGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTACACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATAT[T/A]ATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAATGCCAAATCACATGCAATTTTTTAGTTCTACGGTGGGCATTACTAAAATATAATTTTTTTAGGGTATGAAATCAAATGACCAATTTTTTACACATTTATGTAATCATTTTTAGAATAAAAAAAGTAGGATGTTTGCCTGTTGGCAATGATATTCAATAGGGTGCGTTTACAAGGCAGAGATCTCACAGCAGTCAGCTGCGCACAAT
Associated Phenotype:
Not determined