ZMP
hsd17b12b
Ensembl ID:
ZFIN ID:
Description:
Estradiol 17-beta-dehydrogenase 12-B [Source:UniProtKB/Swiss-Prot;Acc:Q6QA33]
Human Orthologue:
HSD17B12
Human Description:
hydroxysteroid (17-beta) dehydrogenase 12 [Source:HGNC Symbol;Acc:18646]
Mouse Orthologue:
Hsd17b12
Mouse Description:
hydroxysteroid (17-beta) dehydrogenase 12 Gene [Source:MGI Symbol;Acc:MGI:1926967]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31592 | Essential Splice Site | Available for shipment | Available now |
| sa14493 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31592
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 |
|---|---|---|---|---|---|
| ENSDART00000098842 | Essential Splice Site | 150 | 311 | 5 | 11 |
Genomic Location (Zv9):
Chromosome 7 (position 51698998)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 49969234 |
| GRCz11 | 7 | 50242010 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCGTATTCCTACCCAGAGTTCTTCCTCAATATTCCTGATGTTGACAGT[G/A]TGAGTTTGTGTAGTGTTCTCTGCGTTGGGCAGAACTTTCTTCTTTTTAAC
Long Flanking Sequence:
TGAGAAAAAAAAATGGATTGTTGTTTTGAAATTCTCTGCTTTTTTTCTTTATTTTTTCTTTTTTCTTCAGAGAGCAAGTATAAAGTAGAGACCAAAACCATTTCTGCTGACTTTGGATCTGTGGACATCTATCCTAAGATTGAATCTGGACTGGCTGGACTGGAAATCGGAGTTTTGGGTATGTTATATTTGTGTAATTTAGATGTTCGTGGGATACCACACTGATCATGTTTTTATGCTTTGCGATGCTTTAGTATTTGCTGCCAGCTATGGGAAAGTGGTGGGAACTACTTGTCAGTTCCTATTTTTACATTTATTTGTAACAGTTTTATAAGAATATATTTATAATCTATTTAAACATTGCTCAAGTCCCCTGCTAGTGCCTTTTTTTTTAAACATTCTGTCCTGAAAATCTTGTGCCTCTTTTTCCTACAGTTAACAATGTTGGAGTTTCGTATTCCTACCCAGAGTTCTTCCTCAATATTCCTGATGTTGACAGT[G/A]TGAGTTTGTGTAGTGTTCTCTGCGTTGGGCAGAACTTTCTTCTTTTTAACCTAAAAAAAAGCCTATTTGTTGTGATTTTGTTTGAATGTAAACATATTGACTGTTTGATTGCAGTTCATCAACAACATGATCAACATCAATATTATGTCAGTTTGTCAGGTAAGAAGAATTTGCTTCACCCAAATTGGCTTTACTGTATATGCCTTCAGCAAAGTTATTTAGGATTAATAAATAGTCAACCAGGCGAGGCAGTGGCGCAGTATGTAGTGCTGACGCCTCACAGCAAGAAGGTTGTTGGGTCGCTGGTTCGAACCTCGGCTCAGTTGGCGTTTCTGTGCGGAGTTTGCATGTTCTCCCTGCCTTCGCGTGGGTTTCCCCTGGCTGCTCCGGTTTCCCCCACAGTCCAAAGACATGCGGTACAGGTGAATTGGGTAGGCTAAATTGTCCGTAGTGTATGAGTGTGTGTGTGAATGTGTGTGTGGATGTTTCCCAGGAATGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14493
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000098842 | Essential Splice Site | 177 | 311 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 7 (position 51697906)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 49968142 |
| GRCz11 | 7 | 50240918 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNNAAATATACAGATGACCAGGTTGGTACWGCCCAGGATGRWAGACAGG[T/C]AAGTTCATTARTCATTAAATGTRATTTTTGTAGTTGATTTAAAAGTKTAG
Long Flanking Sequence:
GCCGACAAGAAAATGAATGAATGAATGAATGAATGAAATAGTCAACCATTTCTACAATGCAAATCCTATTTTGGTATCTATTTCTTTTTTTTCTTTTTTTGCTGGTCTGCTTTTAGGACTTGTAAATAAATGCCCTACATACAGCACTATATATAAACTAAACCTATTTATAGCCTTATATATAAACATTGAGCAGTTGTTCACTTACTCTGTTATTATGCTTAAATTGTGAGTCTCTGCTGCCACCCTCAGGATTCATCATGTATTTTTCTGTTAGTGCTACATATTATTTTTTTGCACAAAGTGCATGAACATTTATAGTTATGGGATTTTTTTCGTGACTTAAAAATATTCCTGAAAAGATCATTGGAAGTTATCAGAGGTTAAACTGACTCACACATTGCACTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAATATACAGATGACCAGGTTGGTACTGCCCAGGATGGTAGACAGG[T/C]AAGTTCATTAATCATTAAATGTGATTTTTGTAGTTGATTTAAAAGTTTAGTCATTCATAGCAGGCAAAATGTTTCTTTACTTGGTGACATGACTGGCCTTTCATAGAGGAGTTTGTCAAGATTGTTGCTTGGTTATTGCAAGGCCCACACAGAATTTGTGTATGCAGATTTTTAGCACCTCGCTGTTTCCCTTGTGTAAATGTGTGTACATTTATTTTTAGTCCGTTTTCAAATTAATTTCAGTAATATTATTGACTAATATAAATATGTTCATATGATTTATTTCTAATACAGTTTGTAAAGTCATATTCTCAGTATTTTAGTAGATATATGAGAGACTTGCTTTGTTTACCAAATAATTGGATCTAATTGGATTTGTATTGTAAACAATAAATAAAAGTTATAAAGGGTATTATTTTTTTGTTTCATATATTAAGTTTTTAATTGTTATACTCCACAAATTTTTAACAAAATTCTGCGCAGAAATAGCAAAAAAATAT
Associated Phenotype:
Not determined