ZMP
GABRB3
Ensembl ID:
Description:
gamma-aminobutyric acid (GABA) A receptor, beta 3 [Source:HGNC Symbol;Acc:4083]
Human Orthologue:
GABRB3
Human Description:
gamma-aminobutyric acid (GABA) A receptor, beta 3 [Source:HGNC Symbol;Acc:4083]
Mouse Orthologue:
Gabrb3
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 Gene [Source:MGI Symbol;Acc:MGI:95621]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17383 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17383
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087300 | Essential Splice Site | 216 | 532 | 6 | 11 |
Genomic Location (Zv9):
Chromosome 6 (position 38405181)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 38476781 |
| GRCz11 | 6 | 38474317 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAAGGYATCCATTAGATGAGCAGAATTGCACTCTGGAGATTGAGAGTTG[T/G]AAGTGTTCTCTCTCTTCACTCGTCTACAYATTTCCTGCTGCAAAGACCAG
Long Flanking Sequence:
GTTCATTGATATTGACTCGCAAAGGACATTTGTCATCACATCTTAGCCTAAGCTCACACTCGCAGCAGTGACATGATGAATGGAGTGAGATGAGATGCATGACAGCATGCAGTATAGCGCTAGTCAGTAGCCACTTTAATGCAACAAAAAAGCGCATTTTCATATATTCAGATGCGCACTTGTTCATGTCCACTCATGCATATGCATGCTTTGTGCTATATTTGGTTCAAAAGCCTTTTGAAGGGCAGAAAGAGCCATATTTAAATACGCTCCATCTTCCTGATCTTGTTTACACACAAGTTTGCAGTGTTATTTAAAGAGCGATAGATGAGCTGTGAGCACCTGAATGTACAGAACTGGGGCTTTGATTTTTCTGTGACGTACATGCGTGTGTGTGTTTGTTTCTGTGCTTCCAGAATCACTACGACTGCTGCTTGCATGATGGATCTGAGAAGGTATCCATTAGATGAGCAGAATTGCACTCTGGAGATTGAGAGTTG[T/G]AAGTGTTCTCTCTCTTCACTCGTCTACACATTTCCTGCTGCAAAGACCAGCATACATTACCATGCTGTTCCAAGCTGGTTTATACTGGTCAGTGCTAGCAGAGTCATGCTGTTCAATAACAGCAAAAAACATAACATGAAAATTCAGCTTCATTATAGGTTCTGAATGGAAAATATGCTTTTTATTTATGCATTTTATCGTTTTTTTTTTTTTCAAAAGTTTGCCTATAAAAGAGTCTGTAATATTGGCAGTATTTATGAAATAAATCACTTATGCTCACCATGGCTGCATTTATTTGATCAGAAATACAGTAAAAACTGTGCTGTTGTCAAATATTATTACACTTTATGTTACATTTTATTTAAATGATTTCAAACTCAAGATATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTACTTACTCCCAGGACCATAT
Associated Phenotype:
Not determined