ZMP
PCSK9
Ensembl ID:
Description:
proprotein convertase subtilisin/kexin type 9 [Source:HGNC Symbol;Acc:20001]
Human Orthologue:
PCSK9
Human Description:
proprotein convertase subtilisin/kexin type 9 [Source:HGNC Symbol;Acc:20001]
Mouse Orthologue:
Pcsk9
Mouse Description:
proprotein convertase subtilisin/kexin type 9 Gene [Source:MGI Symbol;Acc:MGI:2140260]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23639 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23639
Status:
Available for shipment
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:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000108649 | Nonsense | 585 | 667 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 20 (position 7603034)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 7437540 |
| GRCz11 | 20 | 7427422 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCAGGACATGTGCTGCTAAAAAGGGTATGATGTCATATGCCTTCTGCTG[C/A]CACACGTCCACTCTGGAGTGCAGACTGAAAGAACACCACCTCAATACTCT
Long Flanking Sequence:
ACTAGGCAACCTTAAAGTGTCAACCTTTATTTTAAGGTGTCCTTGTTACACGTTCCATACTTAAACCATACCTAAACATGCATTCTAACTAATCCTATAGTAAGTACATGTTATTAATTAATGTTACTCATTTGTTAAAGGGATAATTCAACCAAAATTGAAATTTCTGTCATCATTTACTCACTAAACCTTTGGTTGCTGGCACAGACTTCTATAGTAGTTTAACAATCAGCAGTCTTCAAATTATCTTCATTTTTGAAGAAATTAACTAATAAAGGTTTAAAAACCACATGAAGCAATTTTGATGTTCAGGTGAACTATTGGGTTAAGTTCATTTCTCTTTACATTTTAAGCACATGATATATGACAGGCTTCACCTTTCCTGCAGGCTGCAGCTTTTCCTCCTCATCTGGAGAAGCATCAGACTCTGATCGGACTCTGCATGGTAGCCGCAGGACATGTGCTGCTAAAAAGGGTATGATGTCATATGCCTTCTGCTG[C/A]CACACGTCCACTCTGGAGTGCAGACTGAAAGAACACCACCTCAATACTCTCAGCCAACAGGTGATATTTACGCTACTGCTTTTCAGTCTATCGCTGATAATGATGTGTTTTTGCTGTTTGGTAAAGAGATATATCCACACTACACAATTACCTCAGACGTTACCATAGGTATAAAATTCGCACATAACTGTGCCCTATATATTACACTATCCGCTTGTTAAGTGTGACGTCACGTAAATGGGCTTCCTGGTCCAAGCGCTCCATTCAAATGTACGGGGAGACTCATAATATGGTAATAAAAAACGTTTACAAAGCGCTTTAATACTTTGGAAAATCACGATCGCAATATATATGTCCATGCCTAATATCCGAATGGCCAGAAAGGGATTCATTTTTGTATAAATTGTTAAAATTGTGATATTTGTGATGCAGCAAGCCCAGAGATTGTCGTGTACACTATGACTTTATATAAAACTCACTTTAATGTGTGATATGAATAA
Associated Phenotype:
Not determined