LOC100149942

Ensembl ID:
ENSDARG00000068192
Human Orthologue:
TAF4
Human Description:
TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa [Source:HGNC Symbol
Mouse Orthologue:
Taf4a
Mouse Description:
TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor Gene [Source:MGI Symbol;Ac

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21893 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21893
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110140 Essential Splice Site 420 733 6 12
Genomic Location:
Chromosome 11 (position 21798824)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAAGAGCTCAACTCCTCTCCTCAGCCTTATCTAGTGCCTTTCCTTAAGG[T/C]ACAGATATTACAGTTCTTAAATCTTCAAGGACACACAATTCAATCCATTT
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/f5t36uk2