ZMP
thrb
Ensembl ID:
ZFIN ID:
Description:
Thyroid hormone receptor beta [Source:UniProtKB/Swiss-Prot;Acc:Q9PVE4]
Human Orthologue:
THRB
Human Description:
thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) [
Mouse Orthologue:
Thrb
Mouse Description:
thyroid hormone receptor beta Gene [Source:MGI Symbol;Acc:MGI:98743]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa749 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa749
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017869 | None | None | 395 | None | 13 |
| ENSDART00000019247 | Essential Splice Site | 228 | 470 | 7 | 10 |
| ENSDART00000104469 | None | None | 379 | None | 13 |
The following transcripts of ENSDARG00000021163 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 19 (position 19509787)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 18062922 |
| GRCz11 | 19 | 17521487 |
KASP Assay ID:
554-0656.1 (used for ordering genotyping assays)
KASP Sequence:
CATCTTTCCTCTTTTCCTTCTTAATAACTGGCATCAACTTTTTTTTCATT[G/C]CTGTCTTGCTGTAACTCTGGCCTTTGTGCTAGAACAAAAAGGAATGAGGA
Long Flanking Sequence:
ACGCTCTCTCAAATTCTCAGCTGCTTCCATTTCTGTCACATTTTTATTTCTTTTTGTGGATAAATTGACATGTTTGTGTAGCTGTTTGCTCACTGTGTCAGAATGAAGGTGTACACAGAAGAGGAAAGCTGAATAATGTCAAAGGGGAACATCAGGCTGGGTTTGTGCTGTACTCAGCTCCCAGTCCTCTTTTGACCCTCAGTCTTATTTTTTCTTTGTCTTTTATATTACATTTTTCTGGTCAGAAGGGCAATCAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTCAGTGGATAACCCTAGTCAATGAACTCCCCAACAGAAGGAGATATCAAAGACATTTCTCTGCTCTTTTCTTCTTCATCTTTCCTCTTTTCCTTCTTAATAACTGGCATCAACTTTTTTTTCATT[G/C]CTGTCTTGCTGTAACTCTGGCCTTTGTGCTAGAACAAAAAGGAATGAGGATTTGTTGTGTCACATTATTCCTCTCAGTAAATTTCCTGTGACTGAGCAAACTGCCCCTTCCCTTCCTGTTGTTGCAGCCAGAAGACATTGGATCGGCACCTATTGTCAATGCACCAGAGGGGAACAAAGTGGACATTGAAGCCTTCAGTCAGTTTACAAAAATTATCACCCCCGCCATCACTCGTGTCGTGGATTTTGCCAAAAAGCTACCCATGTTCTGTGAGGTAAGAACACAAGCCTGCAGTAAAACAAAAAGAATGCAACTGCTTGAAAAGGCCTTCTACCAGAACAAAATGAATGAATACATGATATTTTAAAAGTGGAAAGTACATATTATTATTGAATCTAACTGTGTCATTTCTTTAATTGATCAGCTGCCTTGTGAGGACCAGATCATTTTGCTGAAGGGTTGTTGCATGGAGATCATGTCTCTTCGAGCAGCAGTGCGTT
Associated Phenotype:
Not determined