mpdu1a

Ensembl ID:
ENSDARG00000035562
ZFIN ID:
ZDB-GENE-040912-9
Description:
mannose-P-dolichol utilization defect 1a [Source:RefSeq peptide;Acc:NP_001004545]
Human Orthologue:
MPDU1
Human Description:
mannose-P-dolichol utilization defect 1 [Source:HGNC Symbol;Acc:7207]
Mouse Orthologue:
Mpdu1
Mouse Description:
mannose-P-dolichol utilization defect 1 Gene [Source:MGI Symbol;Acc:MGI:1346040]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12165 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa12165
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000051552 Essential Splice Site 133 258 4 7
Genomic Location:
Chromosome 5 (position 25850263)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGCTCTCCTGGCTYTGCTYATCCACCACCATGAAGGCAAAACCATAAAAG[G/A]TTAGAAAAAGATAAAAGAGNAAAGGCTTGTTTCAYGTGAAKAGAATACCC
Associated Phenotype:
Not determined

GWAS

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

  • IgA nephropathy: A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (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/lnxzifq2