ZMP
si:ch211-132b12.5
Ensembl ID:
ZFIN IDs:
Description:
hypothetical protein LOC790932 [Source:RefSeq peptide;Acc:NP_001073546]
Human Orthologues:
SLC6A11, SLC6A12, SLC6A13
Human Descriptions:
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [Source:HGNC Symbol;
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [Source:HGNC Symbol;
Mouse Orthologues:
Slc6a11, Slc6a12, Slc6a13
Mouse Descriptions:
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 Gene [Source:MGI Sym
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 Gene [Source:MGI Sym
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23362 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23362
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000040160 | Essential Splice Site | 335 | 620 | 8 | 14 |
ENSDART00000049423 | Essential Splice Site | 294 | 579 | 8 | 14 |
The following transcripts of ENSDARG00000068372 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 18 (position 38927060)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 40639777 |
GRCz11 | 18 | 40629969 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTATTTGCAGAATCTGTTGCAATGATGCTTTTTATAATCTATATCCATC[A/T]GGGACTGCTTTTGGCTTTGCCTTCTGAACAGTGGCACCAGTTTTGTGGCT
Long Flanking Sequence:
ATTATTGAAAACGTTCAAAAAAGAGCCATAATAACAGACGCTTTGAGGATAGAGTTGTATTATTTTAAGTAGTATTACTTTATTGCCCATATAAGAACATAAATACATAAAAACACAACTACTGTGAGGACAACTCTGCCATCATAATTTTCCATTACTGCTAAATAAAAATGTAATTTTCAAAACATTTTTGCTTAACACAACTGTTTTAACCACAACTACTTTGTACAATAGCTGTAGATTCTGATTGCAGAAGTGTTTTTAGTAATGATTTTAAAAAAAATTATAAATACATTCTAAGGTTGTGTGTTTGTTTAGGTTTGGATGGAAGCAGGAACTCAGATCTTCTTCTCCTATAGTGTGATTGGTGGTGTTCTAATTTCACTTGGGAGCTATAATCAATACAACAACAACTGCTATAGGTTAGTACTGATGTTTTGGAAAGATCAAATTATTTGCAGAATCTGTTGCAATGATGCTTTTTATAATCTATATCCATC[A/T]GGGACTGCTTTTGGCTTTGCCTTCTGAACAGTGGCACCAGTTTTGTGGCTGGTTTTGCTGTGTTCTCAGTCTTGGGCTTTATGGCTCATGTGCAAGGCGTCCCAATTGAAGAAGTAGCAGAATCTGGTATTGCACATTGCACATATGAAAACAAAATTAATGACTATAAATGTGAAATGTTTAAAATCAGATCTCTCTGTTTCTCTTAGGCCCAGGACTAGCATTCATTGCTTATCCACAGGCAGTAGCTATGATGCCTTTTCCTCAGTTGTGGGCTGTTTGTTTTTTCATCATGATTATTTTGCTTGGCCTAGACACACAGGTAAGCTGAAACTAACCTCCTTAATGTTTCTTTAAAGCATTTGGAAGTGTATTAAATTAAAGTTTATAAAATGAAAACTGAATGACATTTATCTGAATATGTTCAACTGTCTGTATTATCTACATGTAAACGAAAACATAGCTGTTAAATATATACTTAAATCGTAATCACACTACAG
Associated Phenotype:
Not determined