ZMP
tsc1b
Ensembl ID:
ZFIN ID:
Description:
tuberous sclerosis 1b (tsc1b), non-coding RNA [Source:RefSeq DNA;Acc:NR_023332]
Human Orthologue:
TSC1
Human Description:
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Mouse Orthologue:
Tsc1
Mouse Description:
tuberous sclerosis 1 Gene [Source:MGI Symbol;Acc:MGI:1929183]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa916 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa916
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 |
|---|---|---|---|---|---|
| ENSDART00000080667 | Essential Splice Site | 402 | 1228 | 10 | 21 |
| ENSDART00000145057 | Essential Splice Site | 402 | 1228 | 11 | 22 |
Genomic Location (Zv9):
Chromosome 21 (position 15834198)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 17285977 |
| GRCz11 | 21 | 17322613 |
KASP Assay ID:
554-0822.1 (used for ordering genotyping assays)
KASP Sequence:
CATTTCATTAAGCTTTAGTGTGAATTGGGTGTTTTGCTGGTTCTCATGCA[G/A]CAGGTGGAAAAGGCACCCCGTCCTCCAKCACGCCTGCAGCTGCAACACCT
Long Flanking Sequence:
TAGTATTAATTAAAAAAAATATCTTATTCACCAAAAAGTGTGGTATTATAATCTCTGCAACAGTATTGCATAAAACCTCTGCTAGACAGTTTGTGGAACGTGTAAACCAAACAGTCCATAAAGCATAAATATAGTAGATGCCATCTGATAATCACTAGATGAGTTTGTGTAAGCCGTCAAGGGACTGATTTTATCTGTGCTTGTGTTTATTTTTAGAACTCCAGCTGTGAATTTAATGCCACATATGGGGTTAAGGATTCTCTCTGGAGCCCCTCCTCCCAGTGTGGGATGGCCACTCCCCCTTCCTCCCGTGGGATGTCACCAAACCCGGAACTGTCCCAGAGTGCCTCTCACCTACCGAGCCGCCTCTACAGCACACCTGGTGACTATACTGTCTACGCTTGTTCACAATGTTGATATTTATCATGCTGGCACGTGTGTCTGGCTCTCCATTTCATTAAGCTTTAGTGTGAATTGGGTGTTTTGCTGGTTCTCATGCA[G/A]CAGGTGGAAAAGGCACCCCGTCCTCCAGCACGCCTGCAGCTGCAACACCTCCTCCTAGTCTATCAGATGAGTATCCCCCTGTATCGACGCCACGCAGCACCGCCAGCCCACCATGCAAGGTACTCTGTTCATTACAAATCCTTTACTTGTTCCTAAAAAAGTGTCACTTACTTCTGGAGAATGGACCCTTTGCACACGTTTAACTGTGATCATAATCTTAAATCCTTGAAAGTTTTTCATATTTAGAATTTTTTTTAAACGTATGAATATTTATATGTATTTATGAATGTATTGAATCATCTTTGCGTCTAATAAAAAAAAAACAAATTACTGTTTATGTGAGGTGTTTCTCAGGCAGTGTCTATGGGGCTGAGAGTAAATTTGACGTTATTCTCTCCTCTGGCTGCCGTCATCAATCTCACACAGTTTTTTTTCTTTTTCTAAACATCTTGATAACACCATCATGGCGTTTTTCTTGTATTATTTCAGCAAATAGGGTT
Associated Phenotype:
Not determined