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SNP ID:
rs7412
Gene
APOC1 APOE TOMM40
Gene Name
apolipoprotein C1
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.19: 44908822 - 44908822 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

CCGCGATGCCGATGACCTGCAGAAG[C/T]GCCTGGCAGTGTACCAGGCCGGGGC

Assay ID C____904973_10
Size
Availability Made To Order
Catalog # 4351379
Price (USD) 442.00
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Genomic Map

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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 107710 MIM: 107741 MIM: 608061

Literature Links:

 APOC1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.08)
(0.92)
Caucasian
T (0.02)
(0.98)
CEPH (CEU) - Not Available
EAS
T (0.10)
(0.90)
African American
T (0.13)
(0.87)
YRI (Yoruba)
T (0.10)
(0.90)
SAS
T (0.04)
(0.96)
Japanese
T (0.10)
(0.90)
JPT (Japanese)
T (0.05)
(0.95)
AFR
T (0.10)
(0.90)
Chinese
T (0.07)
(0.93)
CHB (Han Chinese)
T (0.10)
(0.90)
EUR
T (0.06)
(0.94)
AMR
T (0.05)
(0.95)
APOC1 - apolipoprotein C1
There are no transcripts associated with this gene.
APOE - apolipoprotein E
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000041.3 724 Missense Mutation CGC,TGC R,C 176 NP_000032.1
NM_001302688.1 724 Missense Mutation CGC,TGC R,C 202 NP_001289617.1
NM_001302689.1 724 Missense Mutation CGC,TGC R,C 176 NP_001289618.1
NM_001302690.1 724 Missense Mutation CGC,TGC R,C 176 NP_001289619.1
NM_001302691.1 724 Missense Mutation CGC,TGC R,C 176 NP_001289620.1
TOMM40 - translocase of outer mitochondrial membrane 40
There are no transcripts associated with this gene.

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More Information


Set Membership:

 HapMap Validated

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Function(s) Process(es)


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