ZMP
hsd11b3a
Ensembl ID:
ZFIN ID:
Description:
Hydroxysteroid 11-beta-dehydrogenase 1-like protein [Source:UniProtKB/Swiss-Prot;Acc:Q6PUF3]
Human Orthologue:
HSD11B1L
Human Description:
hydroxysteroid (11-beta) dehydrogenase 1-like [Source:HGNC Symbol;Acc:30419]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10947 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10947
Status:
Available for shipment
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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 |
|---|---|---|---|---|---|
| ENSDART00000061739 | Nonsense | 104 | 287 | 3 | 6 |
| ENSDART00000105315 | Nonsense | 25 | 208 | 4 | 7 |
| ENSDART00000130468 | Nonsense | 104 | 288 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 19874045)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 19530738 |
| GRCz11 | 22 | 19555716 |
KASP Assay ID:
2261-6744.1 (used for ordering genotyping assays)
KASP Sequence:
ATCCCTGCGGACATGGCCAACCCCTCTGATGCCGATCTTGTGGTGAAGTA[T/A]GCCATCGAACAGCTTGGAGGACTGGATTACCTGGTTCTGAACCACATCGG
Long Flanking Sequence:
CAAAGAGGCTTTTGAAAAAAGTTTAAAGTAACTTTCCACACAATAAACGTGACCAATTGGAAAAGACCATCCCTAAACACCAATATTGTGATAAAAGAAAGCTGGAATTATCTTTTGCCCTTTAAAGCAGTGAACATTGAACACAGTCTTTGCATTGTTTATGTAACGACTGTCATACAGTGAAATATGTTGTTTTTTTTAGAGTCACTAAAAGGTGCCCGGGTGCTGGTGACTGGTGCCAGTACTGGCATTGGTGAGCAGTTGGCGTACCATTATGCACGTTTAGGAGCTCAAATCGTAATCACCGCGAGGAGAGGAAATGTGTTAGAACAGGTCAGTTGAGTTTCTGCTATCATTCATGCTTTAAGCATATTCGATTGCTTCAATATGTTTAATCTGACTCAGGTTGTGAGCAAGTGCCGGGAAATGGGGGCTCAAAAGGCTTTCTACATCCCTGCGGACATGGCCAACCCCTCTGATGCCGATCTTGTGGTGAAGTA[T/A]GCCATCGAACAGCTTGGAGGACTGGATTACCTGGTTCTGAACCACATCGGGCCCAGTCCGTACCAAATGTGGGATGGAGATGTTCAGCACACACGATGGCTACTAGAGGTGCAGAATCACATTGAAGATGTTGTTTATTGAAGATTTACTGAAACTACACACAACATTTTATTCTTGTTAGTATTTATTTACATATTCTCTATGCCAGAGTTTCTAAACCATGTTCCAGGAGGACCAACTGCTCTGCCGATTTTCCACCTCTTCTTAATCAAACACTCCTGATTCAGATCATCAGCTCATTAGCAGCGACCGAAGGACTTGTAATGGGTGTAACAGTCAAAAGAGACATCCAAAACATGCAGTGTTGGTGGTCCTCCAGAATTGTGGTTGAGAAACACTATGCCATTTCTAACCTAAAGTTCATATAATTGCAACTAGTGCATATTTATAAAATAATGAAAGTAAATGTGGATCAAAAATGCATGCTGCTAAAGTCATCC
Associated Phenotype:
Not determined