lrrc48

Ensembl ID:
ENSDARG00000041300
ZFIN ID:
ZDB-GENE-061103-349
Description:
leucine-rich repeat-containing protein 48 [Source:RefSeq peptide;Acc:NP_001071195]
Human Orthologue:
LRRC48
Human Description:
leucine rich repeat containing 48 [Source:HGNC Symbol;Acc:25384]
Mouse Orthologue:
Lrrc48
Mouse Description:
leucine rich repeat containing 48 Gene [Source:MGI Symbol;Acc:MGI:1921915]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa8883 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa8883
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 2014.
Mutation:
C > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060527 Essential Splice Site 266 513 8 13
Genomic Location:
Chromosome 3 (position 62797195)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACATTARGAACACCAAGSAATCGCCKCTCCTTGACAGTCACGTGGCTCTA[C/T]GTTTAGGAGCAGAATGGAGGCTGTGTGYRTGCAGAWGTTTGAGGCAGGRT
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/43n9h7gi