C___2638615_10

SNP ID:

rs8009662

Gene

MIR4709 NPC2 SYNDIG1L

Gene Name

microRNA 4709

NPC intracellular cholesterol transporter 2

synapse differentiation inducing 1 like

Set Membership:

-

Chromosome Location:

Chr.14: 74481400 - 74481400 on Build GRCh38

Polymorphism:

T/C, Transition substitution

Context Sequence [VIC/FAM]:

GCACTATGCTTCAGGTACAGCTTGC[T/C]GAACCGTGAGCTGATCAAACCTCTT

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 601015 MIM: 609999
Literature Links:	MIR4709 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global T (0.35) (0.65)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.41) (0.59)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.26) (0.74)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.25) (0.75)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.35) (0.65)
AMR T (0.32) (0.68)

MIR4709 - microRNA 4709
There are no transcripts associated with this gene.

NPC2 - NPC intracellular cholesterol transporter 2
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_006432.3		Intron			NP_006423.1
XM_017020930.1		Intron			XP_016876419.1

SYNDIG1L - synapse differentiation inducing 1 like
There are no transcripts associated with this gene.

More Information

Gene Ontology Categories:

Process(es)

cholesterol metabolic process
response to virus
phospholipid transport
regulation of isoprenoid metabolic process
cholesterol transport
intracellular sterol transport
intracellular cholesterol transport
cholesterol efflux
cholesterol homeostasis
glycolipid transport

Function(s)

protein binding
cholesterol binding
enzyme binding