Product Details

SNP ID

rs184163025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:117234343 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCGGAATCTTCTAGTTTATGTG[C/T]TTCCAAATCAGACGAAGGTCTCCCA

Phenotype

MIM: 604872

Polymorphism

C/T, Transition 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	179	Missense Mutation	GCT,GTT	A24V	NP_001070707.1
NM_001278249.1	179	Missense Mutation	GCT,GTT	A24V	NP_001265178.1
NM_207343.3	179	Missense Mutation	GCT,GTT	A24V	NP_997226.2

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