ZMP

PCSK6

Ensembl ID:

ENSDARG00000090857

Description:

proprotein convertase subtilisin/kexin type 6 [Source:HGNC Symbol;Acc:8569]

Human Orthologue:

PCSK6

Human Description:

proprotein convertase subtilisin/kexin type 6 [Source:HGNC Symbol;Acc:8569]

Mouse Orthologue:

Pcsk6

Mouse Description:

proprotein convertase subtilisin/kexin type 6 Gene [Source:MGI Symbol;Acc:MGI:102897]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa12153	Nonsense	Available for shipment	Available now
sa40836	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa12153

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

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000131198	Nonsense	40	817	2	19

Genomic Location (Zv9):

Chromosome 7 (position 9941138)

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCCGGTRAGGTTGGTTGATGATTTCTTTATCTTAYTGTGTTTCAGCACTG[T/A]AGTGATAAAAACAGCCGCTGTCGTTCAGAAATGAATATCCTCGGGGCCTG

Long Flanking Sequence:

TCTAAGACCCAGAATAGTTTACTAGCAACACCCTAGCAACCACCCAGAACTTCTTGGTAACACTACCTAGCAACCACACAGAACACTCTAGTAAAACAACCAACAAAAACATTGCAAGACCCAGATTGGTTTACTAGCAACACCCTAGCAACCGCTCTGAACTCCTTGGTAACACTACCTAGCAACCACACAGAACACTCTAGTAACACAACTCCCAAAAACACCCAAAATGGTTTACTAGCAACACCCTAGCAACCACCCAGAAGTCCTTGGTAACACCATAAAAACTCCCTAGCAACCACCCAGAACTCCTTGGTAACACCATATGAACTACCTAGCAACCAAACATAACACTCATAGTTTTGGATGTTTTGCTGTATCTTTAAAATGAACACACTGATCCTAACATCTGAAATACTTTGTTTTTCTTTTTACGTGGACTTTAAAGTTGCCGGTGAGGTTGGTTGATGATTTCTTTATCTTATTGTGTTTCAGCACTG[T/A]AGTGATAAAAACAGCCGCTGTCGTTCAGAAATGAATATCCTCGGGGCCTGGCAGAGGGGCTACACGGGTCGAAACGTAGTTATCACCATCTTGGATGATGGCATCGAGAGGAACCATCCAGATCTGGCTCAGAATTATGTGAGATTTTGATTTACTTCTTTCTTTATTTTGTTGTTGCAAATATTCTGTTGCAGATAATAATGGCGGGACACACCCATCCATTCATTCATCAATCCATTAAACCATCCATCCATCCATCCACTCAAGCACCCACCCATCAATTCATCCATCCATTTACCAACCATCAATTTATCCTACCATCCACCCAACCATCCATACATCAATCTACCCATCCATCCATCCATCCATCCATCCACCCATCCATCCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNATTCATCCATCC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa40836

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000131198	Essential Splice Site	199	817	5	19

Genomic Location (Zv9):

Chromosome 7 (position 9957384)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	8891886
GRCz11	7	9137451

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACGGGCCGGGGCCGCTCGCCAAGCAAGCCTTTGAGCTGGGAAGTAAAAAG[G/T]TTGTTGTCTGAATCACTTCACGCACAAACACAAGCGCTTTCTCACCAACT

Long Flanking Sequence:

ATTAATAACAATAGCAATAATAATAGTAATGATAATAAAAATAATAGTATCAATAATAACAGTAGCAATAATAATAATAATGATAATGATGATAATAATAATATTAATAATGATAATAAATAACAATAGCAGTAATAATAATAACAATAATAATAATAATAATAATAATAATGATGATGATGATGATGATGATGATGAGAGAAAAGGTAAACTGTATGGCAGCTTGGACATCATTCCTGTAGAGTTTCACAGAGAGCTGAACACATTTGGAAATAACTTGCGCAACGACTGACCTCATTGTTTTTTTGGATGAACTTTTCCTCCAAGGTGTTCGGATGCTGGATGGAGACGTGACTGATGTGGTGGAGGCCAAGTCTCTGGGAATCCGGCCAGATTACGTGGACATCTACAGTGCCAGCTGGGGCCCCGACGATGACGGGAAGACGGTGGACGGGCCGGGGCCGCTCGCCAAGCAAGCCTTTGAGCTGGGAAGTAAAAAG[G/T]TTGTTGTCTGAATCACTTCACGCACAAACACAAGCGCTTTCTCACCAACTAACTGTTCAATTAAGACTTCATTAAAAGCACATTATTTGAGGGGACGTTCAGAGATGATGCACTTTACATGAGGGCTATTAAAGTCTGGATTGTGGGAGCTCAGTCTTAATTTATTTCTTAATTTAATTTCTATTTCTATTTTTAATAAGTTTAACTCAATGAAATTTAAGCACGGTTGCTCAGTGGTTAGCACTGTTGCCTCACAGCAAGAAGGTCGCTGGTTCGGGTCCCGGCTGGGTCAGTTGGCATTTCTGTGTGGAGTTTACATGTTTTCTGTTGTCTTGGCGTGGGTTTCCTCCGGGTGCTCCAGTTACCCCCACAGTCCAAACGCATGCTCTATAGGTGAATTGGATGAACTAAATTGGCCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

Associated Phenotype:

Not determined