Busch Lab

ZMP

si:dkey-91i10.3

Ensembl ID:
ENSDARG00000057262
ZFIN ID:
ZDB-GENE-081105-124
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
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.
Availability:
Order Allele From ZIRC
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:
sa21478
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:
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