Product Details

SNP ID

rs201187589

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44513641 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCAGTGCCAGAGCCGGGTTAA[C/T]GTCAGGCCCTGCGGAGAGACAGAGA

Phenotype

MIM: 608010

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

NPC1L1 PubMed Links

Additional Information

For this assay, SNP(s) [rs217434] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	3460	Missense Mutation	ATT,GTT	I1269V	NP_001095118.1
NM_001300967.1	3460	Intron			NP_001287896.1
NM_013389.2	3460	Missense Mutation	ATT,GTT	I1296V	NP_037521.2
XM_011515326.2	3460	Missense Mutation	ATT,GTT	I1204V	XP_011513628.1
XM_011515327.2	3460	Intron			XP_011513629.1
XM_011515328.2	3460	Missense Mutation	ATT,GTT	I722V	XP_011513630.1

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