ZMP
si:dkey-91i10.3
Ensembl ID:
ZFIN ID:
Description:
sterol 26-hydroxylase, mitochondrial [Source:RefSeq peptide;Acc:NP_001116749]
Human Orthologue:
CYP27A1
Human Description:
cytochrome P450, family 27, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2605]
Mouse Orthologue:
Cyp27a1
Mouse Description:
cytochrome P450, family 27, subfamily a, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:88594]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21477 | Nonsense | Available for shipment | Available now |
| sa34631 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa21478 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21477
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079879 | Nonsense | 474 | 513 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 24052163)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 23207949 |
| GRCz11 | 9 | 23018818 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGTGCTTGTCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCT[T/A]GTCCCGGGTAAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAG
Long Flanking Sequence:
ATTATGGGTTAACATGAGACTTCAAATAAATGGTTGTATCAAATTTCAACATTAATATATGATCTGTGGGGGTGCAGTAGCAGAAAATACATATGTTGTGTTAAAAAGTGTTGTAAATTAACTCTCCAGACGTTGTCCTCAGATTATATCCAGTAGTTCCTGGAAATGCTCGTGTTGTTGCAGAAAATGAAATAGTGGTTGGTGATCACCTCTTCCCTAAAAACGTAAGCTGAACTGCAAACTGACAAAGCATAACATGGATTAAACATTACAGCCATAAATGAGTCTGCTCCGTGTTTTCCAGACTCTGTTCCACCTCTGCCACTTTGCGGTGTCCTACGATGAGACGGTGTTCCCCGATCCTTTTGCCTTCCTCCCACAGCGCTGGATCCGAGAGCAGAAACAGTTAAGCCAGCATCCCTTTGGGTCCGTGCCGTTTGGTTTCGGCATCCGTGCTTGTCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCT[T/A]GTCCCGGGTAAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAGTTTCATAACTGCTCACTTTATGCGTTTGCTCTGATTGAATAGCTTGAATAGAACGAATGGCCATAAAAATAAACTCTGATCTTCAATTCCCCTTTAGAATGCACATCAATTATTGATAGTTTTCCATCAGTTTTAATTTCATCAATGAAATTAAGAGCCAAAAATGTTCGCTTACTACCTTTTTTTCTAAGACTAAAGTAAAGACGGGAAGACGTGGATACTATTAGATGCTTGCATCAGCAATTGATGAAAAAGGAAGAGACTAAAAAGATAAAAACTAACCAACATAAATTATTCATTTGTGCTGTTCACTTATTAGACGAGCAGTTCAGAGCGTGTGCATTCATAGATTTCAGTCACTGGCATAACAGACCAGTCAAGTTTCTGTTCATTTCAAGCCACAGACAAGAAACATTTTTCATCTTTATTTTTGTTGACTAAATAAACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34631
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000079879 | Essential Splice Site | 476 | 513 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 24052171)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 23207957 |
| GRCz11 | 9 | 23018826 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCTTGTCCCGG[G/A]TAAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAGTTTCATAA
Long Flanking Sequence:
TTAACATGAGACTTCAAATAAATGGTTGTATCAAATTTCAACATTAATATATGATCTGTGGGGGTGCAGTAGCAGAAAATACATATGTTGTGTTAAAAAGTGTTGTAAATTAACTCTCCAGACGTTGTCCTCAGATTATATCCAGTAGTTCCTGGAAATGCTCGTGTTGTTGCAGAAAATGAAATAGTGGTTGGTGATCACCTCTTCCCTAAAAACGTAAGCTGAACTGCAAACTGACAAAGCATAACATGGATTAAACATTACAGCCATAAATGAGTCTGCTCCGTGTTTTCCAGACTCTGTTCCACCTCTGCCACTTTGCGGTGTCCTACGATGAGACGGTGTTCCCCGATCCTTTTGCCTTCCTCCCACAGCGCTGGATCCGAGAGCAGAAACAGTTAAGCCAGCATCCCTTTGGGTCCGTGCCGTTTGGTTTCGGCATCCGTGCTTGTCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCTTGTCCCGG[G/A]TAAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAGTTTCATAACTGCTCACTTTATGCGTTTGCTCTGATTGAATAGCTTGAATAGAACGAATGGCCATAAAAATAAACTCTGATCTTCAATTCCCCTTTAGAATGCACATCAATTATTGATAGTTTTCCATCAGTTTTAATTTCATCAATGAAATTAAGAGCCAAAAATGTTCGCTTACTACCTTTTTTTCTAAGACTAAAGTAAAGACGGGAAGACGTGGATACTATTAGATGCTTGCATCAGCAATTGATGAAAAAGGAAGAGACTAAAAAGATAAAAACTAACCAACATAAATTATTCATTTGTGCTGTTCACTTATTAGACGAGCAGTTCAGAGCGTGTGCATTCATAGATTTCAGTCACTGGCATAACAGACCAGTCAAGTTTCTGTTCATTTCAAGCCACAGACAAGAAACATTTTTCATCTTTATTTTTGTTGACTAAATAAACACTAATTTCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21478
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 |
|---|---|---|---|---|---|
| ENSDART00000079879 | Essential Splice Site | 476 | 513 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 24052172)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 23207958 |
| GRCz11 | 9 | 23018827 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCTTGTCCCGGG[T/C]AAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAGTTTCATAAC
Long Flanking Sequence:
TAACATGAGACTTCAAATAAATGGTTGTATCAAATTTCAACATTAATATATGATCTGTGGGGGTGCAGTAGCAGAAAATACATATGTTGTGTTAAAAAGTGTTGTAAATTAACTCTCCAGACGTTGTCCTCAGATTATATCCAGTAGTTCCTGGAAATGCTCGTGTTGTTGCAGAAAATGAAATAGTGGTTGGTGATCACCTCTTCCCTAAAAACGTAAGCTGAACTGCAAACTGACAAAGCATAACATGGATTAAACATTACAGCCATAAATGAGTCTGCTCCGTGTTTTCCAGACTCTGTTCCACCTCTGCCACTTTGCGGTGTCCTACGATGAGACGGTGTTCCCCGATCCTTTTGCCTTCCTCCCACAGCGCTGGATCCGAGAGCAGAAACAGTTAAGCCAGCATCCCTTTGGGTCCGTGCCGTTTGGTTTCGGCATCCGTGCTTGTCTGGGCCGCAGAGTGGCTGAACTGGAGATGTACCTTCTCTTGTCCCGGG[T/C]AAACAACACTCATAACTGTCATAGTTTCATAGTTTCAATAGTTTCATAACTGCTCACTTTATGCGTTTGCTCTGATTGAATAGCTTGAATAGAACGAATGGCCATAAAAATAAACTCTGATCTTCAATTCCCCTTTAGAATGCACATCAATTATTGATAGTTTTCCATCAGTTTTAATTTCATCAATGAAATTAAGAGCCAAAAATGTTCGCTTACTACCTTTTTTTCTAAGACTAAAGTAAAGACGGGAAGACGTGGATACTATTAGATGCTTGCATCAGCAATTGATGAAAAAGGAAGAGACTAAAAAGATAAAAACTAACCAACATAAATTATTCATTTGTGCTGTTCACTTATTAGACGAGCAGTTCAGAGCGTGTGCATTCATAGATTTCAGTCACTGGCATAACAGACCAGTCAAGTTTCTGTTCATTTCAAGCCACAGACAAGAAACATTTTTCATCTTTATTTTTGTTGACTAAATAAACACTAATTTCCAC
Associated Phenotype:
Not determined