spsb4a

Ensembl ID:
ENSDARG00000016084
ZFIN ID:
ZDB-GENE-070911-3
Description:
Spsb4a protein [Source:UniProtKB/TrEMBL;Acc:A4QN58]
Human Orthologue:
SPSB4
Human Description:
splA/ryanodine receptor domain and SOCS box containing 4 [Source:HGNC Symbol;Acc:30630]
Mouse Orthologue:
Spsb4
Mouse Description:
splA/ryanodine receptor domain and SOCS box containing 4 Gene [Source:MGI Symbol;Acc:MGI:2183445]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16701 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16701
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
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021510 Nonsense 178 255 1 2
ENSDART00000147821 Nonsense 200 277 2 3
Genomic Location (Zv9):
Chromosome 2 (position 39353740)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 39683905
GRCz11 2 39649544
KASP Assay ID:
2259-2434.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTRCTRGACAYGGACGAGGGCACACTRAGCTTCATGGTGGAYGGACAGTA[C/A]CTTGGAGTGGCCTTCAGAGGTCTTAAGGGCAAAAAGCTGTACCCMATTRT
Associated Phenotype:
Not determined

GWAS

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

  • Stroke (ischemic): Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. (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:

Short-link