Product Details

SNP ID

rs199675529

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46236907 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGACACTAGAGTCTGAGGAAGATA[C/G]AGGGGAAGGGAAGTTAAATCCGTAA

Phenotype

MIM: 600909 MIM: 603294

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LSS PubMed Links

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	6286	Silent Mutation	CTC,CTG	L1902L	NP_003897.2
XM_005261203.4	6286	Silent Mutation	CTC,CTG	L1902L	XP_005261260.1
XM_005261204.4	6286	Silent Mutation	CTC,CTG	L1902L	XP_005261261.1
XM_005261205.3	6286	Silent Mutation	CTC,CTG	L1902L	XP_005261262.1

Gene

MCM3AP-AS1

Gene Name

MCM3AP antisense RNA 1

There are no transcripts associated with this gene.

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