lgi2b

Ensembl ID:
ENSDARG00000069701
ZFIN ID:
ZDB-GENE-060217-3
Description:
leucine-rich repeat LGI family, member 2b [Source:RefSeq peptide;Acc:NP_001034731]
Human Orthologue:
LGI2
Human Description:
leucine-rich repeat LGI family, member 2 [Source:HGNC Symbol;Acc:18710]
Mouse Orthologue:
Lgi2
Mouse Description:
leucine-rich repeat LGI family, member 2 Gene [Source:MGI Symbol;Acc:MGI:2180196]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa13065 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa13065
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
ENSDART00000101623 Essential Splice Site 225 552 6 8
ENSDART00000113109 Essential Splice Site 259 586 6 8
Genomic Location:
Chromosome 1 (position 40420171)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTCCTATTAAAGGATGTCCCAGAAAAACACAGCAAGTGTGTCTCCACAG[G/A]TAACTATTTCKGTTCMTCCGATATCTCTGATTAGTTTTAGTTGAATCTTG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/hwl72e04