lrrc8c

Ensembl ID:
ENSDARG00000059718
ZFIN ID:
ZDB-GENE-030131-2965
Human Orthologue:
LRRC8C
Human Description:
leucine rich repeat containing 8 family, member C [Source:HGNC Symbol;Acc:25075]
Mouse Orthologue:
Lrrc8c
Mouse Description:
leucine rich repeat containing 8 family, member C Gene [Source:MGI Symbol;Acc:MGI:2140839]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20688 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20688
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083330 Nonsense 547 792 2 2
Genomic Location:
Chromosome 6 (position 21403037)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCAAAGCGTTGAAGACCCTGACACTCAAGAGCAACTTCACCAAAATCCCA[C/T]AGTCCATCGTAGATGTGGCCAGCCATCTACAACGCCTCAGTATTTGCAAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/1cxc06qe