ap2b1

Ensembl ID:
ENSDARG00000035152
ZFIN ID:
ZDB-GENE-030131-6564
Description:
AP-2 complex subunit beta [Source:RefSeq peptide;Acc:NP_956213]
Human Orthologue:
AP2B1
Human Description:
adaptor-related protein complex 2, beta 1 subunit [Source:HGNC Symbol;Acc:563]
Mouse Orthologue:
Ap2b1
Mouse Description:
adaptor-related protein complex 2, beta 1 subunit Gene [Source:MGI Symbol;Acc:MGI:1919020]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2269 Essential Splice Site Mutation detected in F1 DNA During 2014
sa14392 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa2269
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000050916 Essential Splice Site None 951 1 22
ENSDART00000134387 Essential Splice Site None 598 1 13
Genomic Location:
Chromosome 5 (position 64720453)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATAACCACACATCTGTACATCCCGCGTCGATTCTTACATCGCTTGTCCG[T/A]ATGTATTTACATCAKCTGTTTGCTTCCCAATTTAGGACACGWCAGGCGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14392
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000050916 Nonsense 400 951 10 22
ENSDART00000134387 Nonsense 400 598 10 13
Genomic Location:
Chromosome 5 (position 64737657)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTTCTAGCAATCCGCTGAGCGCTGTGTTAGCACCCTGCTGGACCTTATC[C/T]AGACCAAAGTCAACTACGTCGTGCAGGAAGCCATTGTGGTCATCAGGGAC
Associated Phenotype:
Not determined

GWAS

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

(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/9ufbvfe1