ZMP
PLEKHG3 (1 of 2)
Ensembl ID:
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 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12318 | Essential Splice Site | Available for shipment | Available now |
sa11911 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12318
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
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 |
GRCz11 | 17 | 1713580 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGAAAAGCAKGAAGACAACAGCGAAGAAKCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATSAGTAATGTTCTGCTTTGGCTGTCMTCAAATTKA
Long Flanking Sequence:
GATTTTGGAATTTACAGCACGTTACGGGTGTATTAACACCTAATGCATAATGATACGGGACGTCGGCTGTCTCAAAGTGTTTTCTGATTGAAGTTCGACTTCAAAAGGAAATTTAACTGTCAAATTTTGGGGGTGGAGGTCGGATGGCTTGCCTTCTGTAATTAAATGAAACAAAGGTTCCCGTTTTATTGTGCTTTGTTTGATGACACACAAAAGCAATTTCTGAAGGTCAGTTGTCTGTGGAAAGACATTGAAGTGCATGGATGCTTTTAAATGAATTGCAAATGTTTGTGAAAGGTTGAAACATTGCTGAAGTGCGCCTAGAATAAATGACAATTGTGTAGAACTGTAACGTCTGCTGATCAGCTGTAATTTTCTGTACTGTGTCCTTAAAGGATAGAGAAGGTTGTTGGGAGAACTGGTCAATGAATAAGAGTGGAAAAACACCTGAAGAAAAGCATGAAGACAACAGCGAAGAATCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATGAGTAATGTTCTGCTTTGGCTGTCATCAAATTGAACATTTAAGTGTTTGTGAGCTTCATCAGATCAGATTAAATGATCTGCAGTCATATAGAAAGGTATTGAGTAATATTTACAGATAGTTTAGTATCCAATATCTGCCGGCAGCTAGCTCTCTGCAACTCTCACATGGTCGCCCACTGAAGCTAAGCAGGGCTGCGCCCGGTCAGTACCTGGATGGGAGACCACATGGGAAAGCTAGGTTGCTGTTGGAAGTGGTGTTAGTGAGGCCAGCAGGGGGCGCCCAACCTGCGGTCTGTGTGTGAGTTCTAATGCCCCAGTATAGTGACGGGGACTCTATACTGCTCAGTGAGCGCCGTCTTTCAGGTGAGACGTTAAACCGAGGTCCCGACTCTCTGTGGTCGTTAAAAATCCCAGGATGTCCTTCGAAAAAGAGTAGGGGTTTAACCCCGGCATCCTGATCAAATTTGCCCACTGGCCTCTGTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11911
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
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 |
GRCz11 | 17 | 1713580 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGAAAAGCAKGAAGACAACAGCGAAGAAKCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATSAGTAATGTTCTGCTTTGGCTGTCMTCAAATTKA
Long Flanking Sequence:
GATTTTGGAATTTACAGCACGTTACGGGTGTATTAACACCTAATGCATAATGATACGGGACGTCGGCTGTCTCAAAGTGTTTTCTGATTGAAGTTCGACTTCAAAAGGAAATTTAACTGTCAAATTTTGGGGGTGGAGGTCGGATGGCTTGCCTTCTGTAATTAAATGAAACAAAGGTTCCCGTTTTATTGTGCTTTGTTTGATGACACACAAAAGCAATTTCTGAAGGTCAGTTGTCTGTGGAAAGACATTGAAGTGCATGGATGCTTTTAAATGAATTGCAAATGTTTGTGAAAGGTTGAAACATTGCTGAAGTGCGCCTAGAATAAATGACAATTGTGTAGAACTGTAACGTCTGCTGATCAGCTGTAATTTTCTGTACTGTGTCCTTAAAGGATAGAGAAGGTTGTTGGGAGAACTGGTCAATGAATAAGAGTGGAAAAACACCTGAAGAAAAGCATGAAGACAACAGCGAAGAATCACTGATTGTCTTCGGACAG[G/A]TAACGTCTTATATTATGAGTAATGTTCTGCTTTGGCTGTCATCAAATTGAACATTTAAGTGTTTGTGAGCTTCATCAGATCAGATTAAATGATCTGCAGTCATATAGAAAGGTATTGAGTAATATTTACAGATAGTTTAGTATCCAATATCTGCCGGCAGCTAGCTCTCTGCAACTCTCACATGGTCGCCCACTGAAGCTAAGCAGGGCTGCGCCCGGTCAGTACCTGGATGGGAGACCACATGGGAAAGCTAGGTTGCTGTTGGAAGTGGTGTTAGTGAGGCCAGCAGGGGGCGCCCAACCTGCGGTCTGTGTGTGAGTTCTAATGCCCCAGTATAGTGACGGGGACTCTATACTGCTCAGTGAGCGCCGTCTTTCAGGTGAGACGTTAAACCGAGGTCCCGACTCTCTGTGGTCGTTAAAAATCCCAGGATGTCCTTCGAAAAAGAGTAGGGGTTTAACCCCGGCATCCTGATCAAATTTGCCCACTGGCCTCTGTCC
Associated Phenotype:
Not determined