abcb3l1

Ensembl ID:
ENSDARG00000036787
ZFIN IDs:
ZDB-GENE-030616-245, ZDB-GENE-990415-260
Description:
ATP-binding cassette, sub-family B (MDR/TAP), member 3 like 1 [Source:RefSeq peptide;Acc:NP_0010065
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
sa1788 Nonsense Available for shipment Available now
sa43214 Essential Splice Site Mutation detected in F1 DNA During 2016
sa412 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1788
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031380 Nonsense 3 725 1 11
Genomic Location (Zv9):
Chromosome 19 (position 7746943)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7205482
KASP Assay ID:
554-1781.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATAGCGTTTCGGTGTTACCACGGCAACCAGTTTACGCACGCACCATGCGG[A/T]AGGTTTTGGTGTTCGCGTGTATGTTATGTTTTGACATCTTAATAGTTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43214
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031380 Essential Splice Site 382 725 5 11
Genomic Location (Zv9):
Chromosome 19 (position 7748469)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7207008
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAAGACCCGACGGGACACAGTCAGGGCGATTTACCTGCTAATTAGGAGG[G/A]TCAGTATTTGTTTATTTTCTCTGAAGGAAACTTTTGATATTATATTGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa412
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031380 Nonsense 443 725 7 11
Genomic Location (Zv9):
Chromosome 19 (position 7748866)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7207405
KASP Assay ID:
554-0271.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTTGATCTACATCTTTGGAGACATGCTGAATTCAGTAGGGGCTGCTGGT[A/T]AGGTGTTTGAGTACCAGGACCGAAAGTCTGAAGTCAGTATTGATGGAAAT
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

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/.)

OMIM

More OMIM information for TAP2

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