LOC568235

Ensembl ID:
ENSDARG00000079391
Human Orthologues:
MRPL42, RP11-455G16.1
Human Description:
mitochondrial ribosomal protein L42 [Source:HGNC Symbol;Acc:14493]
Mouse Orthologue:
Mrpl42
Mouse Description:
mitochondrial ribosomal protein L42 Gene [Source:MGI Symbol;Acc:MGI:1333774]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa26192 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa26192
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111858 Nonsense 24 146 1 5
Genomic Location (Zv9):
Chromosome 4 (position 1685367)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 1975422
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CATCAGCAGACTAGCAAACCTGTTTACCTCAGTCAACCCCAGTAAACATT[T/G]AAAACCCTTCAGAGGTGAGCTGTCATAATACTCTTTATATTCTGAAATCA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Height: Many sequence variants affecting diversity of adult human height. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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