Product Details

SNP ID
rs147353011
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:117234288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGAGCATAATGGCAGCGTCTGAG[G/T]TTGCTGGTGTTGTGGCCAATGCCCC
Phenotype
MIM: 604872
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
PCSK7 PubMed Links

Gene Details

Gene
PCSK7
Gene Name
proprotein convertase subtilisin/kexin type 7
There are no transcripts associated with this gene.

Gene
RNF214
Gene Name
ring finger protein 214
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077239.1 124 Missense Mutation GTT,TTT V6F NP_001070707.1
NM_001278249.1 124 Missense Mutation GTT,TTT V6F NP_001265178.1
NM_207343.3 124 Missense Mutation GTT,TTT V6F NP_997226.2

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