ZMP
LOC556202
Ensembl ID:
Human Orthologue:
GABRG1
Human Description:
gamma-aminobutyric acid (GABA) A receptor, gamma 1 [Source:HGNC Symbol;Acc:4086]
Mouse Orthologue:
Gabrg1
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit gamma 1 Gene [Source:MGI Symbol;Acc:MGI:103156]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa28076 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa28076
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079535 | Essential Splice Site | 211 | 475 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 13 (position 12057235)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 12055603 |
| GRCz11 | 13 | 12188078 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGAACTGAAAGGTCACATGTAATGTGGTGGATGTGTTTTTTTCCGTTTGC[A/T]GATGGGTATCCAAAGAATGAGATCCAGTATAGATGGCAGCGTCGTTCTGT
Long Flanking Sequence:
TCCTCTTAAATGTCACAATCAACCATTTTTTGTTTTGCTATTGTCTATTATTCTTTTCTGTCAGGTTGACTATTAATGCGGAATGCTACCTTAAGCTGCATAACTTTCCAATGGACGAACATTCGTGCCCTCTGGAGTTTTCGAGCTGTAGGTGTTGACTTCTTATGTCCTGTCCTAAATGCAGCCAAACCCCTCGCATTGCCAACCATGCCTTGCCAATACTGGCCAACCAAACCTTAACATTGCAGCAGGTCTGCACTTACCACCATCTTCCAACCTTGCAATGTGTGAGGGCAGATTCTCATCCTTCGTCTCCATCCGCTGTCTCCTCCATCCGTTATGAGCTTCTCATGTGTCATCATTGACTGTGGGCATGGGAAGGGCATGCTGTGCTTTAGTCAAACAGTGCCATTCTGCCATCATTGTACTTTTGTCACTGACTCTACATACCGAACTGAAAGGTCACATGTAATGTGGTGGATGTGTTTTTTTCCGTTTGC[A/T]GATGGGTATCCAAAGAATGAGATCCAGTATAGATGGCAGCGTCGTTCTGTTGAGGTTGCAGACCAGCGGTACTGGAGGCTTTACCAGTTTGCCTTTGTGGGCTTAAGAAACTCTTCTGATGTGGCAAACACTCAGTCTGGTATGAAAAAAACAAAACAATTATTATTTCTTAATTATTAATGAATAATAAATTTATTGTAGCTGTTAATTTATTTTTAACAATTTTAATTTAATTAATTTAATTTAATAAATTTAATTTATTTTTTAGTAAGTAATAATCAAATTATAAAATCTATTAATATTGATTGATAATAAATTATATTAATAATTTGTGTTGTAATAATTTTGTATCATTACTAACGTAGCAACAATATTACTAGGGATTTCCTGATCCGACCATGTGATCGGAAACTGTGCCTGATCACACAGTTTCCGACTCGGATATTTATTCTCATTATTTTTTAACACATCTATAGAAATATGATGGCACAGAGTTAGAC
Associated Phenotype:
Not determined