tpsn

Ensembl ID:
ENSDARG00000079402
ZFIN ID:
ZDB-GENE-990714-21
Description:
tapasin [Source:RefSeq peptide;Acc:NP_571049]
Human Orthologue:
TAPBP
Human Description:
TAP binding protein (tapasin) [Source:HGNC Symbol;Acc:11566]
Mouse Orthologue:
Tapbp
Mouse Description:
TAP binding protein Gene [Source:MGI Symbol;Acc:MGI:1201689]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa4784 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa4784
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
ENSDART00000066173 Essential Splice Site 430 433 None 9
ENSDART00000104845 Essential Splice Site 439 442 None 8

The following transcripts of ENSDARG00000079402 do not overlap with this mutation:

Genomic Location:
Chromosome 19 (position 7661623)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAATGTAAATTTCCATGCAGACTCCGGTKACTCTGAATTAAATGAWAAGG[T/C]SAGTTTTGTTTCTCTAAKCTCTAAACASCACTTTCAMTTTCAATTTTATT
Associated Phenotype:
Not determined

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/6vypzpgp