ZMP

ENSDARG00000033029

Ensembl ID:

ENSDARG00000033029

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
sa17876	Nonsense	Available for shipment	Available now
sa17144	Nonsense	Available for shipment	Available now

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.

Availability:

Order Allele From ZIRC
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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.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

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