Busch Lab

ZMP

hsd17b12b

Ensembl ID:
ENSDARG00000035872
ZFIN ID:
ZDB-GENE-030131-1346
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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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