Product Details

SNP ID
rs52815063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44516100 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACTCACCGCACTTCCCATAGAG[A/T]TGGTGGCCTCTTTGGCCCTCTCCAG
Phenotype
MIM: 608010
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
NPC1L1 PubMed Links

Gene Details

Gene
NPC1L1
Gene Name
NPC1 like intracellular cholesterol transporter 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101648.1 3272 Missense Mutation AAC,ATC N1206I NP_001095118.1
NM_001300967.1 3272 Intron NP_001287896.1
NM_013389.2 3272 Missense Mutation AAC,ATC N1233I NP_037521.2
XM_011515326.2 3272 Missense Mutation AAC,ATC N1141I XP_011513628.1
XM_011515327.2 3272 Intron XP_011513629.1
XM_011515328.2 3272 Missense Mutation AAC,ATC N659I XP_011513630.1

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