hsp90b1

Ensembl ID:
ENSDARG00000003570
ZFIN ID:
ZDB-GENE-031002-1
Description:
endoplasmin [Source:RefSeq peptide;Acc:NP_937853]
Human Orthologues:
HSP90B1, HSP90B2P
Human Descriptions:
heat shock protein 90kDa beta (Grp94), member 1 [Source:HGNC Symbol;Acc:12028]
heat shock protein 90kDa beta (Grp94), member 2 (pseudogene) [Source:HGNC Symbol;Acc:12099]
Mouse Orthologue:
Hsp90b1
Mouse Description:
heat shock protein 90, beta (Grp94), member 1 Gene [Source:MGI Symbol;Acc:MGI:98817]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12898 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12898
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
ENSDART00000004879 Nonsense 359 793 8 18

The following transcripts of ENSDARG00000003570 do not overlap with this mutation:

Genomic Location:
Chromosome 4 (position 8902366)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGCAGAGACCTGCAAAGGAAGTGGAGGAAGATGAATATACAGCCTTCTA[T/G]AAAACTTTCTCCAGGGTKAGTAAAACYGGTGTGTGGCACAAATGGTTAGC
Associated Phenotype:
Not determined

GWAS

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

  • Hypertension: Two-marker association tests yield new disease associations for coronary artery disease and hypertension. (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/kuajcm7z