LOC100151449

Ensembl ID:
ENSDARG00000020671
Human Orthologue:
HEATR1
Human Description:
HEAT repeat containing 1 [Source:HGNC Symbol;Acc:25517]
Mouse Orthologue:
Heatr1
Mouse Description:
HEAT repeat containing 1 Gene [Source:MGI Symbol;Acc:MGI:2442524]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa22040 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22040
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
ENSDART00000011102 Nonsense 540 2159 13 45
Genomic Location:
Chromosome 12 (position 10424411)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAATAAAAGATGATTCTCCAGAAGTTGTGCTGTCTGCACTTAAAGCCTTG[C/T]AGGTGAGATCACGATGTCATGGATGTTATGCATTTTGATAAGTTACTTTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/sz96zada