psmb8

Ensembl ID:
ENSDARG00000001303
ZFIN ID:
ZDB-GENE-990415-141
Description:
proteasome subunit beta type-8 [Source:RefSeq peptide;Acc:NP_571467]
Human Orthologue:
PSMB8
Human Description:
proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) [Source:HG
Mouse Orthologue:
Psmb8
Mouse Description:
proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) Gene [Sourc

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17963 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17963
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104838 Essential Splice Site 243 271 None 6
ENSDART00000121450 Essential Splice Site None 70 None 7
ENSDART00000124282   None 242 None 8

The following transcripts of ENSDARG00000001303 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 19 (position 7728786)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7187325
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATMGCTCAYGCYACACAYAGAGAYGCCTATTCTGGYGGTGTYGTCAACYG[T/G]AAGTCTAATACAAACTGCCAATAAATCTGAGAYAGAAAYGTTCTGTWATA
Associated Phenotype:
Not determined

GWAS

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

  • Nephropathy: Genome-wide association study identifies susceptibility loci for IgA nephropathy. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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