ZMP
CYP27B1
Ensembl ID:
Description:
cytochrome P450, family 27, subfamily B, polypeptide 1 [Source:HGNC Symbol;Acc:2606]
Human Orthologue:
CYP27B1
Human Description:
cytochrome P450, family 27, subfamily B, polypeptide 1 [Source:HGNC Symbol;Acc:2606]
Mouse Orthologue:
Cyp27b1
Mouse Description:
cytochrome P450, family 27, subfamily b, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:1098274]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34997 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa34997
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 |
|---|---|---|---|---|---|
| ENSDART00000066178 | Essential Splice Site | 403 | 506 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 11 (position 323232)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 309969 |
| GRCz11 | 11 | 336467 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGTCATCAACAAAGACATCGAAGTCGGAGGATACGTCATTCCTAAAAAC[G/A]TGAGTGTTGAAACATTTGCTTGGTTTCTGTAGTGTTAAAGATGCTGTGTA
Long Flanking Sequence:
TAATACAGTATAAAACTAATAATGCCAATATCATATAGCTAATTCTGTTACATTCTGGGAGATTGATACAAAGTTCAAATTCACAGGAGGGCCCATACTTTTGCCTTCAAGTGTATGCTTTACAAGCCTCACCACACAATCCTGATGTGTGTGTGTGTGTGTGTGTGTTCAGATTTCCAGCACGCTGTCCTGGTCTCTGTATGAACTCTCCCGTCATCCTGACGTGCAGACGGCGCTGCGGGACGAGGTGTTGAGCGTCATGAAGGGTCGCCGATCCGTCCCGCAGGCCAGTGATGTGGCCGCCATGCCTCTCCTGAAGGCCGTCGTCAAGGAAATCCTCAGGTATAAACCGACAGAAAACAGCTTTCTGCATCTACATCAAGAGTTCATCATCTCTAATGAAGCACTGGGTCTCTTCCAGACTCTATCCTGTTATTCCAGCCAATGCTAGAGTCATCAACAAAGACATCGAAGTCGGAGGATACGTCATTCCTAAAAAC[G/A]TGAGTGTTGAAACATTTGCTTGGTTTCTGTAGTGTTAAAGATGCTGTGTAGAGCTTTGAAATGTTTTTCTTTATTAATAAAAAATAAGATGGACATTACAAAATATATAGATTAACTATCAATAATAAAATGAAATGAATATTAAAAATGAATAAATATGTAAACAAATAAAAAAACATCTTCTAAAACATAAAATGACTCATAGCCCCGGCCTTAATGACTGATAGCTCCACCCTACAGGACTGACAGCGCCTCCCTTAATGACTGATAGCTCCACCCTATAGGACTGACAGCGTGCCATAAAGGACTGATAGCTCCACTCTACCTTAATGATAATAGCCACGCCCTACAGGACTGACAGCCCCTCCCTTAATGACTGATAGCTCCGCCCTAATGGACTGACAGCCCCGCCTTTAATGACTTATAGCTCCAGCCTAAATGACTGATAGCACGACCCTAAAGGACTGATGGCTCCACCTTTAATAACTGATAGCTCCGCC
Associated Phenotype:
Not determined