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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa14493 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14493
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098842 Essential Splice Site 177 311 7 11
Genomic Location:
Chromosome 7 (position 51697906)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
NNNNAAATATACAGATGACCAGGTTGGTACWGCCCAGGATGRWAGACAGG[T/C]AAGTTCATTARTCATTAAATGTRATTTTTGTAGTTGATTTAAAAGTKTAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Neuroblastoma: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/577l5ma7