Product Details

SNP ID
rs11542040
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:44908600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCGGAACTGGAGGAACAACTGACC[A/C]CGGTGGCGGAGGAGACGCGGGCACG
Phenotype
MIM: 107710 MIM: 107741 MIM: 608061
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
APOC1 PubMed Links

Gene Details

Gene
APOC1
Gene Name
apolipoprotein C1
There are no transcripts associated with this gene.

Gene
APOE
Gene Name
apolipoprotein E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000041.3 502 Missense Mutation ACG,CCG T102P NP_000032.1
NM_001302688.1 502 Missense Mutation ACG,CCG T128P NP_001289617.1
NM_001302689.1 502 Missense Mutation ACG,CCG T102P NP_001289618.1
NM_001302690.1 502 Missense Mutation ACG,CCG T102P NP_001289619.1
NM_001302691.1 502 Missense Mutation ACG,CCG T102P NP_001289620.1
Gene
TOMM40
Gene Name
translocase of outer mitochondrial membrane 40
There are no transcripts associated with this gene.

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