Product Details

SNP ID
rs140350540
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44516140 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTCTCCAGCCAGGTGGGCTTGG[G/T]GCTGATGGCAAAGGAGCGGGTAATG
Phenotype
MIM: 608010
Polymorphism
G/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 3232 Missense Mutation ACC,CCC T1193P NP_001095118.1
NM_001300967.1 3232 Intron NP_001287896.1
NM_013389.2 3232 Missense Mutation ACC,CCC T1220P NP_037521.2
XM_011515326.2 3232 Missense Mutation ACC,CCC T1128P XP_011513628.1
XM_011515327.2 3232 Intron XP_011513629.1
XM_011515328.2 3232 Missense Mutation ACC,CCC T646P XP_011513630.1

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