MTMR14

Ensembl ID:
ENSDARG00000059642
Description:
myotubularin related protein 14 [Source:HGNC Symbol;Acc:26190]
Human Orthologue:
MTMR14
Human Description:
myotubularin related protein 14 [Source:HGNC Symbol;Acc:26190]
Mouse Orthologue:
Mtmr14
Mouse Description:
myotubularin related protein 14 Gene [Source:MGI Symbol;Acc:MGI:1916075]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa33865 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa33865
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083085 Essential Splice Site 116 630 3 19
Genomic Location (Zv9):
Chromosome 6 (position 23404238)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 19659684
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCGTTGTAGAGGAAGATTTGTCTGCCCTGTCATCCTCTACAATGGAAAG[G/A]TAACTATCTTGTCGCCCCAATTCAATTTTCACTGCAGTATTTGCAACATA
Associated Phenotype:
Not determined

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