pkm2a

Ensembl ID:
ENSDARG00000003933
ZFIN IDs:
ZDB-GENE-031201-4, ZDB-GENE-031201-4
Description:
pyruvate kinase isozymes M1/M2 [Source:RefSeq peptide;Acc:NP_955365]
Human Orthologue:
PKM2
Human Description:
pyruvate kinase, muscle [Source:HGNC Symbol;Acc:9021]
Mouse Orthologue:
Pkm2
Mouse Description:
pyruvate kinase, muscle Gene [Source:MGI Symbol;Acc:MGI:97591]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa13479 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13479
Current Status:
Available for shipment
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Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062651 Nonsense 84 532 5 12
ENSDART00000123153 Nonsense 84 532 5 12
ENSDART00000123667 Nonsense 118 566 3 10
Genomic Location (Zv9):
Chromosome 18 (position 702704)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 1040893
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTTTCWAATGTYAGTGTTTCTCATTGTTGATYCRTTCTTTGTTTCAGTA[T/A]CATGGAGAAACTATTAAAAATGTACGTGARGCTTGTGCCAGCTTYRAGCC
Associated Phenotype:
Not determined

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