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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa14392 Nonsense Available for shipment Available now

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:
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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 (Zv9):
Chromosome 5 (position 64737657)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 60990317
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/.)

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