Product Details

SNP ID

rs2187118

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.21:46191396 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TAGGAAAGCAAGTAGTCCATCCCGC[A/G]TCAGTCATGGCACCATCAGCCCAGC

Phenotype

MIM: 600909 MIM: 612412

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LSS PubMed Links

Additional Information

For this assay, SNP(s) [rs73144744] 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)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001438.2		Intron			NP_001001438.1
NM_001145436.1		Intron			NP_001138908.1
NM_001145437.1		Intron			NP_001138909.1
NM_002340.5		Intron			NP_002331.3
XM_006724004.3		Intron			XP_006724067.1
XM_011529564.2		Intron			XP_011527866.1
XM_011529565.1		Intron			XP_011527867.1
XM_011529566.2		Intron			XP_011527868.1
XM_011529567.2		Intron			XP_011527869.1
XM_017028346.1		Intron			XP_016883835.1
XM_017028347.1		Intron			XP_016883836.1
XM_017028348.1		Intron			XP_016883837.1

Gene

SPATC1L

Gene Name

spermatogenesis and centriole associated 1-like

There are no transcripts associated with this gene.

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