ZMP
gabrb2
Ensembl ID:
ZFIN ID:
Description:
gamma-aminobutyric acid A receptor, beta 2 [Source:RefSeq peptide;Acc:NP_001019558]
Human Orthologue:
GABRB2
Human Description:
gamma-aminobutyric acid (GABA) A receptor, beta 2 [Source:HGNC Symbol;Acc:4082]
Mouse Orthologue:
Gabrb2
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2 Gene [Source:MGI Symbol;Acc:MGI:95620]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12791 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12791
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114750 | Essential Splice Site | 226 | 519 | 6 | 10 |
| ENSDART00000148259 | Essential Splice Site | 143 | 436 | 6 | 10 |
Genomic Location (Zv9):
Chromosome 14 (position 23252408)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 21952198 |
| GRCz11 | 14 | 22249443 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCATCGTAGACTATAAACTCATCTCCAAGAACGTGGTCTTCTCCACAGG[T/C]TCAGTTTAATCTCTTTCGTGTGTGTCGTACAGYTGGGACCATGAGTCAGA
Long Flanking Sequence:
TCGGTAAACTGGTTTAAATAATTAAAATAATTAAATAAATAATTACAGATTTCCAACATTCTTTAAAGTATTTTCTTTTGTGATTGATAAAGATTTAAAACATTTTCATTCAATATTTAGGTGAACTATTTTCCAGTACTGGGTTGTAGCTGGAAGGATATCTGCTGGAATATTTGGCAGTTCATTCTGCTGTTGTGATCCCTGATATATAAGGAACTAAGCGGAAGAAAAATGAATGATTGAATTTGGATGAACTATCTCTTTAAAAGAAAACATGTGACATAGGAACAAAGTGATTTCGAGTGTGTGTATATTTATGTTTTTAGGATTTGTTGTTACACATGTGTCTGTGTTTTCCCAGATGGATACACCACAGATGACATCGAGTTTTATTGGCGAGGGGGAGATGGAGCGGTTTCGGGGGTGGAGAGAATCGAACTGCCCCAGTTCTCCATCGTAGACTATAAACTCATCTCCAAGAACGTGGTCTTCTCCACAGG[T/C]TCAGTTTAATCTCTTTCGTGTGTGTCGTACAGTTGGGACCATGAGTCAGATCTGTTCAGAAGTTGTGTTTGATCTGGAGGTGGGCGACACGAGCAGAATATTAGATCATGCTATGAGCAGTTTTATTAAGATAAAAGTACACACTAGAGCTAACTTTGTTGCGAATTTAATGAAGAAGTTTAAGAAAGAAAGGTGTGAATAATTTTATTTAAAAACTGAAGAACACAAACCTGAAGATACGGCATGGTTATTTATTACATGAGCGATAAACTAAAGTAAAATAAATCTCACCCTGATTTCATGGAATTTAGAGCTACTCAAAACATTTTTTACTTAGTATTATTATCTTGATATCCAGTCAGATATGCAAGCATACACTTTATAAATGTTGGATTATTAACACTTTCACACTGAAGTTTTAAATACTTCCACTAACCTCCTGTGTCAGCTTTTTAAAAGTGTTTCCATGGCAACACCTCAGTTTTATCACGACACACTGC
Associated Phenotype:
Not determined