mapta

Ensembl ID:
ENSDARG00000089314
ZFIN ID:
ZDB-GENE-081027-1
Human Orthologue:
MAPT
Human Description:
microtubule-associated protein tau [Source:HGNC Symbol;Acc:6893]
Mouse Orthologue:
Mapt
Mouse Description:
microtubule-associated protein tau Gene [Source:MGI Symbol;Acc:MGI:97180]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa22009 Splice Site, Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22009
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 > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000121718 Splice Site, Nonsense 293 392 9 10
Genomic Location:
Chromosome 12 (position 5236695)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTATTTGTTTAATTTGCTTTGAGTCATGAGGAATTTCCCCTTTTTAAGGT[G/T]GAGGAAACATTGAGATCAGGTCTGAGAAGCTTGATTTCAAGGCTCAGTCA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/uarv9t48