Product Details

SNP ID

rs143606600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44916271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTTGGAAACACACTGGAGGACA[A/G]GGCTCGGGAACTCATCAGCCGCATC

Phenotype

MIM: 107710 MIM: 107741

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APOC1 PubMed Links

Gene Details

Gene

APOC1

Gene Name

apolipoprotein C1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321065.1	339	Missense Mutation	AAG,AGG	K47R	NP_001307994.1
NM_001321066.1	339	Missense Mutation	AAG,AGG	K47R	NP_001307995.1
NM_001645.4	339	Missense Mutation	AAG,AGG	K47R	NP_001636.1

Gene

APOE

Gene Name

apolipoprotein E

There are no transcripts associated with this gene.

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