ZMP

LOC794083

Ensembl ID:

ENSDARG00000020876

Human Orthologue:

PDK2

Human Description:

pyruvate dehydrogenase kinase, isozyme 2 [Source:HGNC Symbol;Acc:8810]

Mouse Orthologue:

Pdk2

Mouse Description:

pyruvate dehydrogenase kinase, isoenzyme 2 Gene [Source:MGI Symbol;Acc:MGI:1343087]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa2639	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa2639

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000008010	Essential Splice Site	362	409	10	11

Genomic Location (Zv9):

Chromosome 12 (position 30110381)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	28447318
GRCz11	12	28562220

KASP Assay ID:

554-2811.1 (used for ordering genotyping assays)

KASP Sequence:

GCTCTACTCTATGGAGGGCCATGGCACTGATGCAGTCATTCACCTCAAGG[T/G]ACATTTACACCCAATACTTAACWGAATAGTTTCAAATTYATTCATTTTTA

Long Flanking Sequence:

ACCATATGGGTGCATCCCTAAATGAGGTAACATTTCACATTTCACACCTAAAAAGGTAAATGATCAAATAAAAACAAAATAAACCATAGTATGAAATATTAATTAAAATAATTTATGTAAAAATATTAATAAGTAATATTATTTTTAAATCTGTGCTTCCATACAAAGAAGTAGTTTTAATAGATGTATATTTAAACATTTAACATATTTACCCGTTGCTTTGTTGTGTTAAACTGATCTGCTTCAACTAGACAGGTGTTTAAATACATCTTTAGATTTTGAATCTCTTATTTTGGCATTTTCAATTTGTATGCATGTGATATCACACATAACTGCACATCAAATACACTGCCTCTTTATAAGTTTAGTCGTCTTTTGTCCACAGGCTGGGTTTGGTTATGGTTTGCCCATTTCTCGACTCTATGCCAAGTATTTTCAGGGTGACCTCCAGCTCTACTCTATGGAGGGCCATGGCACTGATGCAGTCATTCACCTCAAGG[T/G]ACATTTACACCCAATACTTAACTGAATAGTTTCAAATTTATTCATTTTTAACTTTGTATCAAAAAATGTATAAAAACACTGAAGAAAATAAACTAAATTAAAAGTAAATTAGGTAAACTAAATTGAACTTTGTATGCAATGAAAATCTGCTGTATATTATTATACATTTTGATTGGTTTTCACTGCATTTGTACGAGCTCACTTGTACTATCCCTTAAAGAACACATTGCTAAATTGAAAAGCCAAGGGAACTTATCACTGTGTTGTAACAGATTACATCATGATTTTTCCCCTCAGGCTTTATCCACCGACTCTGTTGAGAGACTCCCAGTGTTTAATAAGACTGCTCGACGAAATTATGAAGTCACGCAGGGGGCAGATGACTGGTGTGTACCCAGTCGAGAGCCTTTGGACCTGGCTGTGTTCAAACTGGCCAAATGATGAGCCTCCAGGAAGGATACAAAACCCTTCAAGAGCGACTGACATGAGTGAGTGGGGAT

Associated Phenotype:

Not determined