Product Details

SNP ID

rs2839163

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.21:46234474 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TTCACACCAATTGCTAACAAACTCA[C/G]GCTTATTCCCTTTGAATTTCACCTG

Phenotype

MIM: 600909 MIM: 603294

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

LSS PubMed Links

Additional Information

For this assay, SNP(s) [rs17183438] are located under a primer 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

LSS

Gene Name

lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)

There are no transcripts associated with this gene.

Gene

MCM3AP

Gene Name

minichromosome maintenance complex component 3 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003906.4		Intron			NP_003897.2
XM_005261203.4		Intron			XP_005261260.1
XM_005261204.4		Intron			XP_005261261.1
XM_005261205.3		Intron			XP_005261262.1

Gene

MCM3AP-AS1

Gene Name

MCM3AP antisense RNA 1

There are no transcripts associated with this gene.

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