irx1b

Ensembl ID:
ENSDARG00000056594
ZFIN ID:
ZDB-GENE-010716-1
Description:
iroquois homeobox protein 1, b [Source:RefSeq peptide;Acc:NP_571898]
Human Orthologue:
IRX3
Human Description:
iroquois homeobox 3 [Source:HGNC Symbol;Acc:14360]
Mouse Orthologue:
Irx3
Mouse Description:
Iroquois related homeobox 3 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1197522]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17106 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17106
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
ENSDART00000079114 Essential Splice Site 82 445 1 4
ENSDART00000130922 Essential Splice Site 56 419 2 5
Genomic Location:
Chromosome 19 (position 28615951)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCGCCTTCTTACCTTACARCAGTGCCGAGCTGGCCCTGCTCTCTCAGWTG[G/A]TAAGACARTTTATATWTACATGTTATAAAGTATTTTACAGTGGTAAATAT
Associated Phenotype:
Not determined

GWAS

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

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

Register

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* quick link - http://q.sanger.ac.uk/80fzqn2z