xab2

Ensembl ID:
ENSDARG00000007092
ZFIN ID:
ZDB-GENE-040426-685
Description:
pre-mRNA-splicing factor SYF1 [Source:RefSeq peptide;Acc:NP_001038248]
Human Orthologue:
XAB2
Human Description:
XPA binding protein 2 [Source:HGNC Symbol;Acc:14089]
Mouse Orthologue:
Xab2
Mouse Description:
XPA binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:1914689]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa14562 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14562
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011780 Essential Splice Site 831 851 18 19
Genomic Location:
Chromosome 3 (position 53985060)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
YGATGATGATGATNNNNNNGATGAGGATGCGGAGGAYGCSGAGCCAGAGG[G/T]TTAGTTTTTATGAGAYTGGKGGTGTKATGGTGGASTAATTCGTATTAAAA
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/ptldhjf6