Product Details

SNP ID
rs217435
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44513605 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATGACTGCTGCCACCGCCTCCT[C/T]AGCCCGCTTCTGCTCCAGTGCCAGA
Phenotype
MIM: 608010
Polymorphism
C/T, Transition 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 3496 Missense Mutation AAG,GAG K1281E NP_001095118.1
NM_001300967.1 3496 Intron NP_001287896.1
NM_013389.2 3496 Missense Mutation AAG,GAG K1308E NP_037521.2
XM_011515326.2 3496 Missense Mutation AAG,GAG K1216E XP_011513628.1
XM_011515327.2 3496 Intron XP_011513629.1
XM_011515328.2 3496 Missense Mutation AAG,GAG K734E XP_011513630.1

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