ZMP

CYP46A1 (5 of 5)

Ensembl ID:

ENSDARG00000093477

Description:

cytochrome P450, family 46, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2641]

Human Orthologue:

CYP46A1

Human Description:

cytochrome P450, family 46, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2641]

Mouse Orthologue:

Cyp46a1

Mouse Description:

cytochrome P450, family 46, subfamily a, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:1341877]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa36957	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa44932	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa36957

Status:

Mutation detected in F1 DNA
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
ENSDART00000138064	Essential Splice Site	139	485	4	16

Genomic Location (Zv9):

Chromosome 20 (position 5175435)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	5091028
GRCz11	20	5133851

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACCAAAGATCCATTTGTCTACCGACGCGTCTTTAACTTGTTTGGGAAAAG[G/A]TAAACTTTAATTTGTTCTTAAATGATCACATCTCTACATCGATTTAGGGT

Long Flanking Sequence:

TGAGCTAATCATGAACAACACTTGTACAGCATTTATAAATCATAATTGAACATTTACTAATGCATTATTAACATCCAAGTCTGTGCTTGTTAACATTAGTTAATGCACCATGAGTTAACACGAACTAACAATGAACAACAGAATTTTCATTAACTAACGTTTACTAACATAAATAAATACTGTAGTAGATGTGTTGTTCATTTGTTGTTCATTGTTAGTAAATGCATTAATTAACATTAACTAATAAACCTAATTGTAAAGTGTGACCGCTTTAACATGCATTAACAAAGTGTTAGAATTATTATAATATGGATAGAGTAAAATACATTTTACTATACTATGGTTCAAAAACATTTTTCAAAAGCATTTTCATGTGAGGACGCTGTAATAAATAATAATAATAATATTTTTGTTTTGTTTTTGTAGACGATCATGATGTCACCTAAGTATACCAAAGATCCATTTGTCTACCGACGCGTCTTTAACTTGTTTGGGAAAAG[G/A]TAAACTTTAATTTGTTCTTAAATGATCACATCTCTACATCGATTTAGGGTGTATTACTACCACTACTACCTCCTTCATCATGCTAGAGGCTCCATTACATTAAACTCACCTTTATTTCTATAGCGCTTTTACAATGTAAATTGTGTCAAAGCAGCTTCACATAGAAGATTATAGTAAATTGAAACAGTGTCAGTTCAGTTTTCAGTGTTTAAGTTCAGTTCAGTTTAGCTTAGCTTAGTTCATTGTGGTTAATAATGAGAGTCCAAACACTGAAGAGCAAATCCATCAATATGCAGTTCTACAGATCCCGAACCATGCAAGCCAGTGTGGACAGCGGGAAGAAAAAAAACTTTACCAACTGGCGAAAGTAAAGAATTAAAAAAACCTTGAGAGAAACCAGACTCTGTAGGGCACGACCATTTCTCCTCTGGCCAAATGTCTTGAGCAGAGCTGCAGTCTAGGCGCCAGAGGCCGGTTAAATCTTAACTATATGGCATTTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa44932

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000138064	Nonsense	343	485	12	16

Genomic Location (Zv9):

Chromosome 20 (position 5179386)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	5094979
GRCz11	20	5139384

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGGTGGATGAAGTCCTCGGAACCAAAAGGGAAATTTCAAATGAAGACCTT[G/T]GAAAATTGACTTACTTGTCTCAGGTTGGTTCATAGAGACTTTTACATGCT

Long Flanking Sequence:

TATGTTTTGTTGCAGAGGAGCAAAATGTTACTAGCACAGAAGATTTTGAGCAGATGTTGGACAATTTTGTGACTTTCTTCATGGCTGGTGAGTTACTGCTTACTTTGATTTTAATTCATAAACTGTTGTGGATATGAACGGACTGCATGCAGTGTTTTATAGCATATACTCCTAACCCTACCCTTTACAGTGACATCACTAGTTCTATTGATTGCATGTGTCTGAGATTGCTTGTCTCAGCTTGCATGTCTGCAGCCAGATACTATTGCTTTATTCTTCCGCAGGCCAAGAGACAACAGCCAATCAGCTCTCATTTGCAATCATGGAATTAGGGAGAAATCCAGAGATCTATAAACGGTAAAACACTTGTTAGAAATGTGTCCCTGTTCTGTCAGACTTTTATTATAATACTACAGTTCAATATTCCTTTCATTTCCAGAGCTAAAGCAGAGGTGGATGAAGTCCTCGGAACCAAAAGGGAAATTTCAAATGAAGACCTT[G/T]GAAAATTGACTTACTTGTCTCAGGTTGGTTCATAGAGACTTTTACATGCTACAAACACAAATGCTTTTAAATCCATTTCTTTTAATGGTCTTTTGTGTTATTCAGGTGTTGAAGGAAACCCTGCGTCTGTACCCCACTGCGCCAGGAACCAATCGCTGGCTTCATGAGGACATGATCATAAACGGCATTAAAATCCCTGGAGGCTGTTCTGTTATGGTGAGCATCACCAACATGACTAACAAAATCAGCTCCTGTCTACTTAAATGCAGAAAGATTTTATGTTAAATATTTTTAAGCTGAATTAATACAATTTTAAATGTTAAAGTCAACAAAATTCTGACAACACTGGCCACTAGGGATGTAACGGTATCAGAATTTCACGGTACGGTAATACCTCGGTATGAATGTCACGGTACGGTATTTATTGAATCATTTACAGGAAAAAAAAAACTTTTGAAAATACTCCCAAAAAAGTGCCAAAAGTGTCAATGACATACAAA

Associated Phenotype:

Not determined