ZMP
hsd17b8
Ensembl ID:
ZFIN ID:
Description:
estradiol 17-beta-dehydrogenase 8 [Source:RefSeq peptide;Acc:NP_001005292]
Human Orthologue:
HSD17B8
Human Description:
hydroxysteroid (17-beta) dehydrogenase 8 [Source:HGNC Symbol;Acc:3554]
Mouse Orthologue:
H2-Ke6
Mouse Description:
H2-K region expressed gene 6 Gene [Source:MGI Symbol;Acc:MGI:95911]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa30708 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30708
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000001331 | Essential Splice Site | 251 | 256 | None | 9 |
The following transcripts of ENSDARG00000001169 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 19 (position 7802075)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 7260614 |
| GRCz11 | 19 | 7179539 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGCTGTCAGTTTGTTGTACTGATCTACACTGTCCTCTTTAATCCATAC[A/T]GGCGGACTCTTCATTGGCTGAAAACAGACTGTTGAATGTGACTCAATCGT
Long Flanking Sequence:
CTAATTGGTGAATATTTCTAAACAGCATTATGGGTAATCTAGTTCTGTAGCACAACATTTGACTACATAAAGTAGGTTAAACAAAACCACATACTATTGATAGACAGTTTCAGAGCCCATAACAGCTCTGTCTATAAAGGTAAATAATTTCTTTCTTTAAAGTATTTTATTGTTTTACCACGGTGCTAATCTTAGTGTGAAACCTTTCTCTGTTCACAATTAAAATCAGAGTTAAAAACGATAATAAAACTGGTGTTAAGCCAATTTTTAAAGCCTTTTCTCTCTTTTTTTATTTGTCTATGCAGAAGTAGCTGACGCCTGTGCGTTTCTGGCTTCTGATGACAGCCGATATATCACCGGAGTCAGCATTGAAGTTGCTGGTAAGAAGCTTGATCTCTTTATAAACCACTATTTCAGCAGAAACGTGTGTGTTATTTCATGTAGAAACGAGCTGCTGTCAGTTTGTTGTACTGATCTACACTGTCCTCTTTAATCCATAC[A/T]GGCGGACTCTTCATTGGCTGAAAACAGACTGTTGAATGTGACTCAATCGTGCCTTTACCTCAGTCAGAGTGTGTAAATTGTATTTTAATTGCTGTAAAAACTGCGTACACAATATAACAAATGAAAAAAATAAACTCTATATTTATACAACTGAAGAGAGTGAATATTCAATACAGAATTAACCGCACACAGGGAGGAAATGTGTTGATGTGTGGTTTAATGGGAACTTTAGACCAAAACAACAAGAATTAAAACAGATAACAGCTGCAAACCCACACTTATAAAACTGGAGGACAAATAAAATATTGATATCTGAAGAGTTAATTTGATGGACAGACGTATGACGGCTTCATGGAGACATGATATGTGCTGTTTAGATGATGATCTCAGTTTAGCAGATCAAATATTAGCATGTGACGACAGTAAACAACCAAAAGAACAACAAAGGAGTCCAACAGCTCTTTAAATAGATTATATATTACACAAACAGACTTTGAAGT
Associated Phenotype:
Not determined