ZMP
si:dkey-20i10.4
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate gamma-aminobutyric acid (GABA) A receptor, beta family [Source:U
Human Orthologue:
GABRB1
Human Description:
gamma-aminobutyric acid (GABA) A receptor, beta 1 [Source:HGNC Symbol;Acc:4081]
Mouse Orthologue:
Gabrb1
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 1 Gene [Source:MGI Symbol;Acc:MGI:95619]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14288 | Nonsense | Available for shipment | Available now |
| sa22246 | Essential Splice Site | Available for shipment | Available now |
| sa10445 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14288
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000108535 | Nonsense | 101 | 484 | 4 | 9 |
| ENSDART00000139841 | None | None | 199 | None | 2 |
Genomic Location (Zv9):
Chromosome 13 (position 12198738)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 12197106 |
| GRCz11 | 13 | 12329581 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGWGTGWTTTCAGGACTACACYATTACCATGTATTTCCAGCAGTCCTGG[C/T]GAGACAAGCGTCTGTCCTACACAGGGATTCCTCTTAATCTTACTTTGGAT
Long Flanking Sequence:
AATTTAGTGGATGTTTTCATTTTCATTTTCACTGTATATTCAGCATGAATAAGCTCTGAATGTAATTGAAATGAATTAGACAGCGCATGTATGATGTAAGTATGTTCAAGCTCACACCCACGAATGCCCGCACTGTCATGATTTGAATATGGAATCAATTCAGAACTTTTGAGAATTGATTCACAGTAGCTAGAGAAAGATTTGCATACATAGATGAATTGACTTCTTTTCTCCCACTTCTATTGGAGGGTCAGAGAGCTGTCTGATTTCATCTCAAATATTTTAATTGATGTCCCAAAGATGAACAAAGGTCTCTAGAGATTGAAATCAAATTAGGGCGATTAATTAATCACAGAATTTTTATTTTTGGGTGAACTAATCCTTTAAGTGCAGCTGAAGAGCTCAAATACTTTCTCATACATTAATTTTTTTTCTTTTGTGTGTTTGTGTTTGTGTGTTTTCAGGACTACACCATTACCATGTATTTCCAGCAGTCCTGG[C/T]GAGACAAGCGTCTGTCCTACACAGGGATTCCTCTTAATCTTACTTTGGATAACCGAGTGGCGGATCAGCTCTGGGTGCCTGATACTTACTTCATAAATGATAAGAAATCTTTTGTTCACGGGGTAACAGTGAAGAACCGCATGATCCGTCTGCATCCTGATGGGACTGTCCTCTACGGCCTCAGGTCAGTGTATGTGTGTGTGTGTGTGTGTTTGCATGTGTGCATACTGTATTGTTTTGTCTCTCTTCTTCTCTCTCGTATATACGTTAGATTAATGCTTGATTCTTCTGCCTGCTTGTATCTATACATTTATCTCTGTCTGCTTGTGTAGGCTGTATTTTTGGCTGCCTCTATTCCCCTGGCTGTCCTGATGTTGCATTTTTAGATTTTAGAGGCCGACGAGAGATGCGTATCCTGTCTAAGTCAGTGAATATAGGCTTTGTTTACCAAAGAAAGATGAGACTGTCTCTGTCCTCATTGGAAGTGGCCATACAGTAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22246
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 |
|---|---|---|---|---|---|
| ENSDART00000108535 | Essential Splice Site | 162 | 484 | 4 | 9 |
| ENSDART00000139841 | None | None | 199 | None | 2 |
Genomic Location (Zv9):
Chromosome 13 (position 12198923)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 12197291 |
| GRCz11 | 13 | 12329766 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCGCATGATCCGTCTGCATCCTGATGGGACTGTCCTCTACGGCCTCAG[G/A]TCAGTGTATGTGTGTGTGTGTGTGTGTTTGCATGTGTGCATACTGTATTG
Long Flanking Sequence:
GTAGCTAGAGAAAGATTTGCATACATAGATGAATTGACTTCTTTTCTCCCACTTCTATTGGAGGGTCAGAGAGCTGTCTGATTTCATCTCAAATATTTTAATTGATGTCCCAAAGATGAACAAAGGTCTCTAGAGATTGAAATCAAATTAGGGCGATTAATTAATCACAGAATTTTTATTTTTGGGTGAACTAATCCTTTAAGTGCAGCTGAAGAGCTCAAATACTTTCTCATACATTAATTTTTTTTCTTTTGTGTGTTTGTGTTTGTGTGTTTTCAGGACTACACCATTACCATGTATTTCCAGCAGTCCTGGCGAGACAAGCGTCTGTCCTACACAGGGATTCCTCTTAATCTTACTTTGGATAACCGAGTGGCGGATCAGCTCTGGGTGCCTGATACTTACTTCATAAATGATAAGAAATCTTTTGTTCACGGGGTAACAGTGAAGAACCGCATGATCCGTCTGCATCCTGATGGGACTGTCCTCTACGGCCTCAG[G/A]TCAGTGTATGTGTGTGTGTGTGTGTGTTTGCATGTGTGCATACTGTATTGTTTTGTCTCTCTTCTTCTCTCTCGTATATACGTTAGATTAATGCTTGATTCTTCTGCCTGCTTGTATCTATACATTTATCTCTGTCTGCTTGTGTAGGCTGTATTTTTGGCTGCCTCTATTCCCCTGGCTGTCCTGATGTTGCATTTTTAGATTTTAGAGGCCGACGAGAGATGCGTATCCTGTCTAAGTCAGTGAATATAGGCTTTGTTTACCAAAGAAAGATGAGACTGTCTCTGTCCTCATTGGAAGTGGCCATACAGTAACATTCACATTCATCTCAATAGCAGTTGCTTGGCTGGTAAAATAAAGGTATACAAAAGCATGTTTATAAATGTAATAAATAGCAATATATGGTGTATGTATATTTTATGCACTCACACACTCTCAATAAGGATTTCTACCCTTCTTTCTCTCTTACATACACAACATAAGCCTACCTTTTACAACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10445
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 |
|---|---|---|---|---|---|
| ENSDART00000108535 | Essential Splice Site | 234 | 484 | 6 | 9 |
| ENSDART00000139841 | None | None | 199 | None | 2 |
Genomic Location (Zv9):
Chromosome 13 (position 12225866)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 12224234 |
| GRCz11 | 13 | 12356709 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTATTATTGATTATAAAACACTGTCTAAGAAAGTGGTGTTCGCCACAG[G/A]TACAGTGCGCTCCCTGCATGTCCATGAGATGAATAGACTGTTTTTCGAGA
Long Flanking Sequence:
CATAATAATTAAAAAGTTCAGAGAGCATTGCAGACAGCAAAGAGGGAACCAGCATGAGTATTACAGCTACGCTTCAGTCACTCTAGGCTGATGTTTCCTTTGATTGAGCTTAATGAAGAACAGGGAGAATTGAGTATCAGAAGGCTTCATCCTCTAATTAAGCTTTAATGTTCTGCAGGACTGTGAGATTAGAGCTGTGAGTCTGCAGGGACAATCGTGTCAGTTAGACCTGTGTTCTCACCGCAATCACATGCTGATTTACACCACATGACTGTGGGAACGTGATCGAGCACACTTTCCCTTTGAGCCTTTTGTGAAGATCTGTGTATTCCTGAGAGCCTTTCTGTCCCTCTTTTGTCTCTCAGATGGATACACCACAGATGACATTGAGTTCTACTGGCAGGGAGGAAGTTCGGTGACGGGGGTGGACAACATCGAGCTGCCGCAATTCTCTATTATTGATTATAAAACACTGTCTAAGAAAGTGGTGTTCGCCACAG[G/A]TACAGTGCGCTCCCTGCATGTCCATGAGATGAATAGACTGTTTTTCGAGATGAGTCAGCCCTCCTCTGTCCTTCACTTTATGCCAAAATTACCTTCACACAAACAAAATAGAGTCCTGCTGCAAATGTTTTGTTTGTTTTTCAGCACAGAATGTTAAAAATAGCATGCTTAGCTGTAATGTTGTTCATGTTTATCTTTTAAAGGCATGGTTTTGTATAAAATAGAGTCACAGACAATGTTCTTTGATTTTACTTGTAAATCAATGTCTTTAGGGTAATACTTTATTTTGATCATCTCCTTTAAACATTCTGCTGACTAAACGTATCTTTGCAACCATATGTAAACAAGCAGTCATTAGAGATTTAGTAGATTGCTGAATATCTGCTGACTCTTTAATTTGATGCTTTTTTTAACCCACATCTAGCTGACTGTAACTTTCCAAGTATGTTATATACACTACCTGACAAAAGTCTTGTGGTCAATCCCAGTTGTAAAAGCAA
Associated Phenotype:
Not determined