MRPL52

Ensembl ID:
ENSDARG00000090568
Description:
mitochondrial ribosomal protein L52 [Source:HGNC Symbol;Acc:16655]
Human Orthologue:
MRPL52
Human Description:
mitochondrial ribosomal protein L52 [Source:HGNC Symbol;Acc:16655]
Mouse Orthologue:
Mrpl52
Mouse Description:
mitochondrial ribosomal protein L52 Gene [Source:MGI Symbol;Acc:MGI:1916086]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa13103 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13103
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127177 Nonsense 75 127 4 5
Genomic Location (Zv9):
Chromosome 7 (position 25283975)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 23845727
KASP Assay ID:
2259-8773.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGGTAGGCCTGCACCACTGCTCAAAGGACAGATMCGCAGACAAAAGCAA[C/T]GAGAGGAGTTTGCTGTAAGASTTMTAAAATGTTGTATTTGTTTCCTGWTR
Associated Phenotype:
Not determined

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