LOC570766

Ensembl ID:
ENSDARG00000063411
Human Orthologue:
C6orf154
Human Description:
chromosome 6 open reading frame 154 [Source:HGNC Symbol;Acc:21375]
Mouse Orthologue:
Gm88
Mouse Description:
predicted gene 88 Gene [Source:MGI Symbol;Acc:MGI:2684934]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3845 Nonsense Mutation detected in F1 DNA During 2014
sa7712 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa3845
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092646 Nonsense 280 319 5 8
Genomic Location:
Chromosome 13 (position 3617159)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACGGAGAGGCCCGCGGCAGCTCGGTGACGGCCCGAGAGAAACCCGCCTG[G/A]CTCCCGCACAGCAGTAAGGGCTGAACACTGCCTCAAATATCTCTGCTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7712
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092646 Essential Splice Site 296 319 8 8
Genomic Location:
Chromosome 13 (position 3620507)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTGCTCTTCAAACATTACAGACATTTACCGAGTTGTYTCTGACCCTTCC[A/T]GACTCTTCCAGCTCCCAGATGGTCCTGATGACTTCAGGACTGRGTGAGAG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/v599tiur