PLEKHG3 (1 of 2)

Ensembl ID:
ENSDARG00000086520
Description:
pleckstrin homology domain containing, family G (with RhoGef domain) member 3 [Source:HGNC Symbol;Ac
Human Orthologue:
PLEKHG3
Human Description:
pleckstrin homology domain containing, family G (with RhoGef domain) member 3 [Source:HGNC Symbol;Ac
Mouse Orthologue:
Plekhg3
Mouse Description:
pleckstrin homology domain containing, family G (with RhoGef domain) member 3 Gene [Source:MGI Symbo

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11911 Essential Splice Site Available for shipment Available now
sa12318 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa11911
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127588 Essential Splice Site 241 718 9 10
ENSDART00000127588 Essential Splice Site 241 718 9 10
Genomic Location (Zv9):
Chromosome 17 (position 1297551)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150391.1 5590
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGAAAAGCAKGAAGACAACAGCGAAGAAKCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATSAGTAATGTTCTGCTTTGGCTGTCMTCAAATTKA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12318
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127588 Essential Splice Site 241 718 9 10
ENSDART00000127588 Essential Splice Site 241 718 9 10
Genomic Location (Zv9):
Chromosome 17 (position 1297551)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150391.1 5590
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGAAAAGCAKGAAGACAACAGCGAAGAAKCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATSAGTAATGTTCTGCTTTGGCTGTCMTCAAATTKA
Associated Phenotype:
Not determined

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