cyp27c1

Ensembl ID:
ENSDARG00000092660
ZFIN ID:
ZDB-GENE-080204-68
Description:
cytochrome P450, family 27, subfamily C, polypeptide 1 [Source:RefSeq peptide;Acc:NP_001106808]
Human Orthologue:
CYP27C1
Human Description:
cytochrome P450, family 27, subfamily C, polypeptide 1 [Source:HGNC Symbol;Acc:33480]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10938 Nonsense Available for shipment Available now
sa14231 Nonsense Available for shipment Available now
sa2308 Nonsense F2 line generated During 2016
sa7591 Missense, Splice Site Mutation detected in F1 DNA During 2016
sa33808 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa10938
Current 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
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Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081309 Nonsense 162 468 4 9
ENSDART00000144335 Nonsense 265 571 4 9
Genomic Location (Zv9):
Chromosome 6 (position 8151429)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9339730
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATATGATGAGTAAAACAWATTTGACTCTTTCTTAGGTGTTGCAACTATTT[T/A]ATACGAGACTCGCCTGGGCTGCTTGGAAAATGAAATTCCCAAGATGAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14231
Current 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
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081309 Nonsense 181 468 4 9
ENSDART00000144335 Nonsense 284 571 4 9
Genomic Location (Zv9):
Chromosome 6 (position 8151487)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9339672
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTCGCCTGGGCTGCTTGGAAAATGAAATTCCCAAGATGAGTCAGGAGTA[C/A]ATYACTGCATTACACCTCHTGTTCAGCTCCTTTAAGACCACCATGTACGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2308
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081309 Nonsense 211 468 4 9
ENSDART00000144335 Nonsense 314 571 4 9
Genomic Location (Zv9):
Chromosome 6 (position 8151575)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9339584
KASP Assay ID:
554-3010.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCACCATGTACGCTGGTGCCATTCCCAAATGGCTGCGTCCCATCATTCCC[A/T]AACCCTGGGAGGAATTCTGCAGCTCATGGGACGGCCTCTTTAAATTCAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7591
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Missense, Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081309 Missense, Splice Site 337 468 7 9
ENSDART00000144335 Missense, Splice Site 440 571 7 9
Genomic Location (Zv9):
Chromosome 6 (position 8154558)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9336601
KASP Assay ID:
554-4350.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTGTTTAAAACAAAACATTATTTAACTTCATCCCTCTACTGCACACAGG[C/T]TTTTYCCTGTTCTCCCTGGAAATGGACGTGTTACACATGATGATCTGATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33808
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081309 Nonsense 357 468 7 9
ENSDART00000144335 Nonsense 460 571 7 9
Genomic Location (Zv9):
Chromosome 6 (position 8154620)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 9336539
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCCCTGGAAATGGACGTGTTACACATGATGATCTGATCGTTGGAGGTTA[T/A]CTTATTCCTAAAGGGGTAAGAGCAGCATGTATCATGTAACTGACCATTTC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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