TTBK1 (1 of 2)

Ensembl ID:

ENSDARG00000056019

Description:

tau tubulin kinase 1 [Source:HGNC Symbol;Acc:19140]

Human Orthologue:

TTBK1

Human Description:

tau tubulin kinase 1 [Source:HGNC Symbol;Acc:19140]

Mouse Orthologue:

Ttbk1

Mouse Description:

tau tubulin kinase 1 Gene [Source:MGI Symbol;Acc:MGI:2147036]

Alleles

There are 5 alleles of this gene:

Mutation Details

Allele Name:

sa1130

Current Status:

F2 line generated
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 2015.

Mutation:

T > A

Consequence:

Nonsense

Genomic Location:

Chromosome 11 (position 31563284)

KASP Assay ID:

554-1041.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CCGTCAGAGTTTAATGTCTTCCTGGAGCATGTTTTAGCCCTTGACTACTA[T/A]ACCAAACCAGACTATCAGGTACCTACAAACTACCTACACATTTAGTATTC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa21939

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 2015.

Mutation:

A > T

Consequence:

Nonsense

Genomic Location:

Chromosome 11 (position 31581763)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

AGGACTTCGACAGCAAAGAGTGGGTGATCATAGACAAGGAAATGGAGCTC[A/T]GAGACTTCCACCACCTTCCAGGAGCCGAACCTACCACTTCCGGCACGACG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa27808

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 2015.

Mutation:

C > T

Consequence:

Nonsense

Genomic Location:

Chromosome 11 (position 31582072)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

CGCTGCCCTCCGGACGGCCCCGGCGGAGAGATGCAGATAACAACGGACCT[C/T]AGAGACAGGTAAGATTATCCTTTCTAGCACGCTCTGACATGCTAATGCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa7291

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 2015.

Mutation:

A > C

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 11 (position 31585125)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

GAGCGATAAAACAATGAGGTCSTCTGTAGCACATCCTGGTGTTGTCTTTA[A/C]TAGTGTTGTCCCAATACTGAGCTTTCAAGCGGAACTKTTTAAGCGGCGCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19008

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 2015.

Mutation:

C > A

Consequence:

Nonsense

Genomic Location:

Chromosome 11 (position 31598249)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

TTCTGGAGATGAGCCCAAGAGACCTTCAGAGACTCTTTCTACTACAGGCT[C/A]GGAAGAAGATGTTCTTGAATCTGATGATTCCCTAAACAAGCTCAAGAAGG

Associated Phenotype:

Not determined

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