LOC556826

Ensembl ID:
ENSDARG00000033446
Human Orthologues:
TAP2, XXbac-BPG246D15.9
Human Descriptions:
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) [Source:HGNC Symbol;Acc:44]
Truncated antigen peptide transporter 2 [Source:UniProtKB/TrEMBL;Acc:B6VNV2]
Mouse Orthologue:
Tap2
Mouse Description:
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) Gene [Source:MGI Symbol;Acc:MGI:98484]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9721 Essential Splice Site Available for shipment Available now
sa7700 Nonsense Mutation detected in F1 DNA During 2014
sa13057 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9721
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039510 Essential Splice Site 262 728 3 11
Genomic Location:
Chromosome 12 (position 28126481)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGAATGTCATGAAGCAGGAGATAGACTTCTTTGATGAAATCAAACCAGG[T/C]AAACCAAAGAGGYCTAATTGTGTGACGTCTTTTTTGGAGGATTCTTGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7700
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039510 Nonsense 370 728 5 11
Genomic Location:
Chromosome 12 (position 28124108)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATAAAGACTGTTCGCAGTTTTAARGCAGAGTGTCAAGAACAGCAGCGATA[T/A]GAACAGACTATCAACAGGAARCTCCAGGTTTTGAGGCGTAAAGGCTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13057
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039510 Nonsense 556 728 8 11
Genomic Location:
Chromosome 12 (position 28120643)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTGAAATGTTCCTGGATRGAGAACCTCTKTACCRCTATCAACACCAGTA[T/G]TTGCATAAAAAGGCAAGAAACCGTACACAGGTGTTTANNGNNTTATCTAACTTT
Associated Phenotype:
Not determined

GWAS

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

  • Lymphoma: Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. (View Study)
  • Nephropathy: Genome-wide association study identifies susceptibility loci for IgA nephropathy. (View Study)
  • Pubertal anthropometrics: Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (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/ecogr4ne