ZMP
PKLR
Ensembl ID:
Description:
pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]
Human Orthologue:
PKLR
Human Description:
pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]
Mouse Orthologue:
Pklr
Mouse Description:
pyruvate kinase liver and red blood cell Gene [Source:MGI Symbol;Acc:MGI:97604]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa7300 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7300
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 |
|---|---|---|---|---|---|
| ENSDART00000075275 | Nonsense | 99 | 537 | 5 | 14 |
| ENSDART00000115024 | Nonsense | 99 | 535 | 5 | 14 |
Genomic Location (Zv9):
Chromosome 16 (position 57898505)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 54633143 |
| GRCz11 | 16 | 54454035 |
KASP Assay ID:
554-4658.1 (used for ordering genotyping assays)
KASP Sequence:
TATTACAGCACTGAGCTGGTTTGAGGACATGTCTGAKGTCCTGATARTTA[C/T]GAATGCTTAAAAATAATTTGAGCACTCAGGTTGTCCACAGGTGTGTGTGG
Long Flanking Sequence:
CACACACACACACACACACTGCCCGCAACACCAGCATCATCTGCACCATCGGTCAGACACACACACACACACACACACACACTGCCCGCAACACCAGCATCATCTGCACCATCGGTCAGACACATACACACACACACACACACACACACACACACTGCCCGCAACACCAGCATGTTGTTACTGATTTTAAAGTGTTTTAGATCACTAATGTGTTTGTTTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAGGTCCAGCGTCTCGATCCATCACTAAACTACAGGAGATGGTGAAAGCAGGAATGAACATCGCCAGACTCAACTTCTCTCATGGCACTCATCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGATTTATGAGGACAGAAATGTGTATAATGTTGTGGGTATGATCTAAGTATTACAGCACTGAGCTGGTTTGAGGACATGTCTGAGGTCCTGATAGTTA[C/T]GAATGCTTAAAAATAATTTGAGCACTCAGGTTGTCCACAGGTGTGTGTGGGTGGGGTTAGGGGGAGGAGCTTATAATAAGAGAATTACCATATAAAATACATTACACCTGTGGAGAGTCCTCATAAACCACCTATACCAGCATGTGTGTGTGAGAGAGGCTAATAGTGTAGATAATACAGGCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCATTGTGTTGTATTTGTGTTTCTCTCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTGTGTGTGTGTGTGTTTCTCTCTTTATCTTTGTGTGTGTTTCATTATGTGTGTATCATTCAGCTCGTATCCGGCGTTACTCAGAGGTCATGGCTCTGCCGGACTCATTCATCCAGAAGCAGCAGC
Associated Phenotype:
Not determined