C_102736007_10

SNP ID:

rs77083917

Gene

LSS MCM3AP MCM3AP-AS1

Gene Name

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

minichromosome maintenance complex component 3 associated protein

MCM3AP antisense RNA 1

Set Membership:

-

Chromosome Location:

Chr.21: 46236170 - 46236170 on Build GRCh38

Polymorphism:

A/G, Transition substitution

Context Sequence [VIC/FAM]:

TGAATATTTTTAAAGTATTTGCCAA[A/G]CTGATGAATGGAAACAGTACATCAT

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 600909 MIM: 603294
Literature Links:	LSS PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global G (0.01) (0.99)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.03) (0.97)
AMR G (0.00) (1.00)

LSS - lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
There are no transcripts associated with this gene.

MCM3AP - minichromosome maintenance complex component 3 associated protein
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	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

MCM3AP-AS1 - MCM3AP antisense RNA 1
There are no transcripts associated with this gene.

More Information

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

immune system process
DNA replication
protein import into nucleus
mRNA transport

Function(s)

nucleotide binding
DNA binding
transferase activity, transferring acyl groups