Product Details

SNP ID
rs143585348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:75891196 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCCGGGACCATGGGCTGGGGGAG[A/C]CGCTGCTGCTGCCCGGGACGTTTGG
Phenotype
MIM: 600488
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PCSK5 PubMed Links

Gene Details

Gene
PCSK5
Gene Name
proprotein convertase subtilisin/kexin type 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190482.1 553 Missense Mutation AGA,AGC R5S NP_001177411.1
NM_006200.5 553 Missense Mutation AGA,AGC R5S NP_006191.2
XM_005252039.3 553 Missense Mutation AGA,AGC R5S XP_005252096.1
XM_011518769.2 553 Missense Mutation AGA,AGC R5S XP_011517071.1
XM_011518770.2 553 Intron XP_011517072.1
XM_017014800.1 553 Intron XP_016870289.1

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