ZMP
hsd3b7
Ensembl ID:
ZFIN ID:
Description:
3 beta-hydroxysteroid dehydrogenase type 7 [Source:RefSeq peptide;Acc:NP_956103]
Human Orthologue:
HSD3B7
Human Description:
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Source:HGNC Symbol;Acc
Mouse Orthologue:
Hsd3b7
Mouse Description:
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Gene [Source:MGI Symbol
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33221 | Essential Splice Site, Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa33221
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:
A > T
Consequence:
Essential Splice Site, Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053684 | Essential Splice Site | 55 | 368 | None | 6 |
| ENSDART00000121983 | Essential Splice Site | 55 | 368 | None | 7 |
| ENSDART00000125260 | Splice Site | None | 366 | None | 7 |
The following transcripts of ENSDARG00000036966 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 32900348)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 32631658 |
| GRCz11 | 3 | 32763372 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTAGATAGGATTTCTTAAATTGCTAAGCACGTTTTTTCTTTTATTCAC[A/T]GAGGATGTGAAAGTGGTCATCATACAGGGAGATATAACAAAATATGAGGA
Long Flanking Sequence:
AATAATTTGATAGCACGTTTCACAAATATTTTAAAGTTTAAGCTTATCTACAAAATTGCTATATAAAGTAAGCAAAGGTTTGTCAACAGATTCCAATACGATGAAATATTATTGATGAATTATTATGTGTACTGCTGGATGTGATGCATGTGTATTCCAATGACAACATGAGACCTATTTAAAATGAAAATGGCTTAAATAGACCATTTCAATGTGTTGATGTCATTGATCCATGGACATTTTTTTTCTTGATTATCCAACTATTTCATAACTGTAACAAGGGGCATTTCAATCATAACTTGATGTTAAAGCAGCTATCATAACATTATTTATCAAAATGTGGCTCTTTCTGGATTCTTGGAAAAGAAAATACAAAATGTAAAACAGGAAATATGTTGGGACCACTGTTTTTGTTTACATCCCCTTAAAAATGTTCTATATGAAAAAACAATCTAGATAGGATTTCTTAAATTGCTAAGCACGTTTTTTCTTTTATTCAC[A/T]GAGGATGTGAAAGTGGTCATCATACAGGGAGATATAACAAAATATGAGGATGTACGCAATGCATTCCTGGGAGCAGACCTGGTTTTCCATGCCGCAAGTTTGGTTGATGTGTGGTATAAAATTCCAGAGAAGGTCATCTTTGCTGTCAATGTACAAGGTAAGTGAATAATAAGTTAAAAGGAAGATAAAAGAAGACTGATAGCAATGCTTTTGTATCAGTAATGAAAGTGTTTTGCTGTTTGTAAGGGTTTACAATCACAGGTATTGAATGTACAGGTGGAGAGTACTATAGAAAACCGAATTTTCCCTGCAACTACTCACTAAGGCTGCATTCATTTGATCAAAATACAGTAAATCAGTGTTCTTAAAGTCAATACAGTAACACTTTATTTTGATGGTCCACTTGAGTATTAGTAGACAGTCTGCTTTCACTAACTCTAACCCTAACCCAACAGGTTACTAATAATCTAATAAGAATTAGTTGGCATGTAGATGCAATG
Associated Phenotype:
Not determined