ZMP
si:ch211-145n14.1
Ensembl ID:
ZFIN ID:
Description:
LOC553402 protein [Source:UniProtKB/TrEMBL;Acc:Q561U3]
Human Orthologue:
GABRG2
Human Description:
gamma-aminobutyric acid (GABA) A receptor, gamma 2 [Source:HGNC Symbol;Acc:4087]
Mouse Orthologue:
Gabrg2
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 Gene [Source:MGI Symbol;Acc:MGI:95623]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17984 | Splice Site, Nonsense | Available for shipment | Available now |
| sa32358 | Nonsense | Available for shipment | Available now |
| sa24028 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17984
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000075740 | Splice Site, Nonsense | 88 | 370 | 3 | 8 |
| ENSDART00000092821 | Splice Site, Nonsense | 88 | 469 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 21 (position 40808541)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 41962167 |
| GRCz11 | 21 | 41975377 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGAACTAATTTGACATTCTCTTTGTTTCTCTCCACTTCTCTTTATAGTC[A/T]AACCCACTGTGATCCATACGGACATGTTTGTGAACAGTATTGGCCCAGTA
Long Flanking Sequence:
TAACTTTTGCATAGATTATGGTAGAGACACTTTTCTTTTTTACTATGATTACAGACATGTGCAGGAACCACCAACATTAATTACAGCAAGCTAGACCACACAGAACCTAAATGGTACACTTTCAAATAGTGTACCTTTTAATAGTGTCAATTGAATTCAAAAAACCTTTAATAGTGTTTTATGAAAATTTAAAGGGTTTTCTTTAAAATAAAATAACAATTTTTGCATTTACACCTCTGCATGTGGATTTGGGAAGCTTTTAAATTTGGTTAGGCAAAATCCAAGCGGAAATCCCAAAATAGCACTAGAGTTGAAGTTGAAACATCTCACGAGAAGGCAAATGATAAAACAGCAGATAAAGTGACAATATATTAAACAAATGATGACAAAGGCACATTCTTTTTGTTAAATATTATTGGAATGGAAATAACCCCCTTTTATCCGAGTTTACTGAACTAATTTGACATTCTCTTTGTTTCTCTCCACTTCTCTTTATAGTC[A/T]AACCCACTGTGATCCATACGGACATGTTTGTGAACAGTATTGGCCCAGTAAATGCCATTAACATGGTAAGTTATTCTGTAATTACAACCTCTTTGTTTGCATTATGACTGACATGCTTTTTATCTATAATTGAACAGAATTTGATGTTGTTAAATGTGTTATATTTTGTAACATCACTCATTATAAACAATGTATAAAATGTTGCTGAAACACTGTCAGTGTGCTGTTGGATTTTACGGAGTAATGTTTATTGAAGATTAGTTTGACATCTCTATTTCGTTTATTCTAATCTAATGGTAAAGCACGATAAGCTGAACTGATTATGGATTTTTGAAATTCTCTGTTGTTTGAAAAAAAAAAAAAAACTAAATTCTCAACTGTAACCTAGAATTTGAACATATTTTGATTTCATTTTAATAGTTGGGGTCTTTGGTGTTTTTTTGTAATGTTATTTATAATTTATTTAGGGATTTTATAAATTAAAATGACAAATAATCTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32358
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000075740 | Nonsense | 126 | 370 | 4 | 8 |
| ENSDART00000092821 | Nonsense | 126 | 469 | 4 | 9 |
Genomic Location (Zv9):
Chromosome 21 (position 40815051)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 41955657 |
| GRCz11 | 21 | 41968867 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGTACACAATTGACATCTTCTTCGCCCAGACGTGGTATGACAGACGGT[T/A]GAAGTTTAACAGTACCATGAAGGTTCTACGCCTCAACAGCAACATGGTTG
Long Flanking Sequence:
AGCATTCAGCTGCGCGTCTAGCTCCGCCTTTTGGTACCCTTTCTCATGTTTTGGGACCCTTTCGAAAGGGTGCCGAAAAAGTGGTACGGTACGGTTTGGTTTAGTACGCCTTTTGACAGTGGAAACGGCCAGAAAAGCGTACCAAACCGAACCGCACCACTCAGTGGAAACGGGCCATAAGGGTACACTCATAACTTTAATAGCCCATTTCCATTGACAGTCATGGGTCACCTTTATCAGGCTTGCGTTTCCACTGCCAAAAGGGTACCAATGCTACCAAAGCTGTACGGGTCGTTCACATGTCATATCAGAAGCACTTCTAACAAAACGGATGCTTTATACACATAAACACCTTTGTTTGTTCTAAAAAAATAAGCAAATATGGCCAAACATAGTGGAATACTTATAATATTCTAATTACGTCAAAAAAATGCCCTTTCTGGTTCTTTAGGAGTACACAATTGACATCTTCTTCGCCCAGACGTGGTATGACAGACGGT[T/A]GAAGTTTAACAGTACCATGAAGGTTCTACGCCTCAACAGCAACATGGTTGGAAAAATCTGGATTCCGGACACATTTTTCCGCAATTCTAAAAAAGCAGACGCCCATTGGATCACCACACCCAATAGGATGCTTCGGATATGGAATGACGGGCGTATACTGTACACTTTAAGGTAAATACGCTTTTTATATGTCAATGATTTGTTCGCAATACATCATTTGAGCATACCCAGATAGCAAGCAACGGCTAACAACGCTAAGCTACTGCTAAACAATGCTAAGGAATAATTAGGCCCACACGGAATCTGCGCGCGCAGAAATCCGCAGATTTTTAGCCGCTCATTGAGTTTTTTACTTGATTTAATGTGTTAATTTTTATTTTACGAAGTTTTACAATTATTTTCAGTAATTTTATTGACTAATATGCAGATGTTCATATGATTTCTTAATAATACAGTTTGTAAAGTGATATTGTCTGTCTTTTAGTAGAAATATTATACGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24028
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 |
|---|---|---|---|---|---|
| ENSDART00000075740 | Essential Splice Site | 256 | 370 | 6 | 8 |
| ENSDART00000092821 | Essential Splice Site | 256 | 469 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 21 (position 40827687)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 41943021 |
| GRCz11 | 21 | 41956231 |
KASP Assay ID:
2261-6065.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTTTTGTTGGCCTGAGAAATACCTCAGAGGTTGTCAGGACTGTCTCAG[G/A]TACGGCTTCGGTTTTACTCAGCATCTCTATCCTTTTATGTATGTTTGTTT
Long Flanking Sequence:
CCTGGCAAACACACTGCTGTCTTCTTAAGTGAAATGATCTGTCTGTGCAGGAAATGTTATGTACTTAGCTTTAATCGTCAATGTAAGATCTCAGTGTGTCATCTGAGGATTGGTTTGAAATTGTTTGTATGTTTATTTAGAAAATCAAAAACTGCTTTTATTCTACCTGAAATAAAACAAGACTTTCTCTATAAGAAAAAAACAGGAAATAATGTGCAAAAATTTTGTGCTGTTAAACATCATTTGGAAAATATTAGAAATCACAGGAGGACAAACAATTTTCACGTCAACTGTATATAATTTGATATATGTACAGTTTATTTTGTGTGTTCAGAACCAACTCTAATCGTTTGTTTCTGCAGACGGCTACCCCAAGGAGGAGATTGTATACAAGTGGAAGCGCAGCTCTGTGGAAGTTGGAGATATCCGCTCCTGGCGTCTGTACCAGTTCTCTTTTGTTGGCCTGAGAAATACCTCAGAGGTTGTCAGGACTGTCTCAG[G/A]TACGGCTTCGGTTTTACTCAGCATCTCTATCCTTTTATGTATGTTTGTTTTTGCTTTTGTCTCAAATGTTCACATAACAATATCCCCTTTTTTTGGCCGTAAAAAGTCAAGTTTGATCAATTAGTGTTGTTTAGCTTCAATATTTTTTGGGAATATCAAATGCTGTGGCCACAAGATAATTTTGGTTGAATAACAAAATCTTTATGTTGTAATCATGCACAATGTGGAGTCAGCCTTTAGATCGTATGTTGAGGGAACTACACCATTTCTCATAGACCTGAGATTAATAAAACACAACAGTTTACTGTGTCAGAGGTAAAATACGACAATAAAATAGGACAATAGTAAAACAACAGTTTATTGTGAAAGGGGTGGGTTTAGGGTTGGGCTAGGTGTTGACAATAATAAAACACAATAGGTTAGATGCTGTGTCATTTACAAGACATTAAATATGTCAATCAAAATCCACAGTAGGTTCAGCTTATATGGAGCTCAAGTCC
Associated Phenotype:
Not determined