Product Details

SNP ID
rs80002318
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:55068894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACCTTCTAGTGGCTTAAAAATG[C/T]TTTCCTTGAGAAATACACGATCCGC
Phenotype
MIM: 607786 MIM: 610569
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PCSK9 PubMed Links

Gene Details

Gene
PCSK9
Gene Name
proprotein convertase subtilisin/kexin type 9
There are no transcripts associated with this gene.

Gene
USP24
Gene Name
ubiquitin specific peptidase 24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015306.2 8332 UTR 3 NP_056121.2
XM_005270690.3 8332 UTR 3 XP_005270747.1
XM_017000831.1 8332 UTR 3 XP_016856320.1
XM_017000832.1 8332 UTR 3 XP_016856321.1
XM_017000833.1 8332 UTR 3 XP_016856322.1
XM_017000834.1 8332 UTR 3 XP_016856323.1
XM_017000835.1 8332 Intron XP_016856324.1
XM_017000836.1 8332 Intron XP_016856325.1
XM_017000837.1 8332 Intron XP_016856326.1

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