lamb1a

Ensembl ID:
ENSDARG00000089288
ZFIN ID:
ZDB-GENE-021226-1
Description:
laminin subunit beta-1 [Source:RefSeq peptide;Acc:NP_775382]
Human Orthologue:
LAMB1
Human Description:
laminin, beta 1 [Source:HGNC Symbol;Acc:6486]
Mouse Orthologue:
Lamb1
Mouse Description:
laminin B1 Gene [Source:MGI Symbol;Acc:MGI:96743]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11145 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa11145
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
ENSDART00000125680 Essential Splice Site 767 1127 17 23
Genomic Location:
Chromosome 25 (position 32538766)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGRAATTACATCTTCAGTGTGTCAGCTCTTCTSCACCAGGGAGTTAAAG[G/A]TACATCCATRCTGAACAAATTGTARATTTTTATTRTTAAATAAATAAATA
Associated Phenotype:
Not determined

GWAS

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

  • IgG glycosylation: Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (View Study)
  • Ulcerative colitis: Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (View Study)
  • Ulcerative colitis: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (View Study)
  • Ulcerative colitis: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (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/n7sa0d9z