TACC2

Ensembl ID:
ENSDARG00000062790
Description:
transforming, acidic coiled-coil containing protein 2 [Source:HGNC Symbol;Acc:11523]
Human Orthologue:
TACC2
Human Description:
transforming, acidic coiled-coil containing protein 2 [Source:HGNC Symbol;Acc:11523]
Mouse Orthologue:
Tacc2
Mouse Description:
transforming, acidic coiled-coil containing protein 2 Gene [Source:MGI Symbol;Acc:MGI:1928899]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3852 Essential Splice Site Mutation detected in F1 DNA During 2014
sa4507 Nonsense Mutation detected in F1 DNA During 2014
sa15379 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa3852
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101653 Essential Splice Site 913 1297 8 19
Genomic Location:
Chromosome 13 (position 29094671)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACCGACTTCACAGCTTTTGTCAATGAGAACAGTTTYTCACAGAGTGATG[G/A]TAAGAGGACAAAAGATGGATGGATTTTATTTCAAAGGAATAATACTTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4507
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
ENSDART00000101653 Nonsense 1117 1297 14 19
Genomic Location:
Chromosome 13 (position 29111197)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGTTCTTCTTATTTCAGATTGTTGTGAAAGAGAAAGAAGCCATGGAGTG[G/A]AAGAGGAAATACGAGGAGAGTAGACGGGAGGTGGAGGAGATGAGGTGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15379
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101653 Nonsense 1212 1297 17 19
Genomic Location:
Chromosome 13 (position 29123737)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCGTTTTTCCATCAGAATGAGGATGTCCTAAAGAAATGTGCGCAGGAATA[T/A]CTGTCTCGTGTTCGTAAGGAGGAGCAGCGCTATCAGGCCCTAAAGATTCA
Associated Phenotype:
Not determined

GWAS

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

  • Myopia (pathological): A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. (View Study)
  • Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)

(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/kkk8hwut