C__25626701_10

SNP ID:

rs9970286

Gene

CEPT1 DENND2D

Gene Name

choline/ethanolamine phosphotransferase 1

DENN domain containing 2D

Set Membership:

> HapMap

Chromosome Location:

Chr.1: 111194776 - 111194776 on Build GRCh38

Polymorphism:

A/G, Transition substitution

Context Sequence [VIC/FAM]:

AGGTGTCACTATACTGCAAGATCAT[A/G]CAGACCCCGAGGTGCTAGGCCTCTA

Assay Details

Species:	Human
dbSNP Submissions:	67 submissions
Phenotype:	MIM: 616751 MIM: 615111
Literature Links:	CEPT1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global A (0.30) (0.70)	Caucasian - Not Available	CEPH (CEU) A (0.39) (0.61)
EAS A (0.38) (0.62)	African American - Not Available	YRI (Yoruba) A (0.30) (0.70)
SAS A (0.24) (0.76)	Chinese - Not Available	JPT (Japanese) A (0.30) (0.70)
AFR A (0.31) (0.69)	Japanese - Not Available	CHB (Han Chinese) A (0.34) (0.66)
EUR A (0.34) (0.66)
AMR A (0.23) (0.77)

CEPT1 - choline/ethanolamine phosphotransferase 1
There are no transcripts associated with this gene.

DENND2D - DENN domain containing 2D
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001271833.1		Intron			NP_001258762.1
NM_024901.4		Intron			NP_079177.2
XM_006710921.2		Intron			XP_006710984.2
XM_006710922.1		Intron			XP_006710985.1
XM_006710923.1		Intron			XP_006710986.1
XM_006710924.1		Intron			XP_006710987.1
XM_011542187.1		Intron			XP_011540489.1
XM_011542189.1		Intron			XP_011540491.1
XM_011542190.2		Intron			XP_011540492.1
XM_017002386.1		Intron			XP_016857875.1
XM_017002387.1		Intron			XP_016857876.1
XM_017002388.1		Intron			XP_016857877.1
XM_017002389.1		Intron			XP_016857878.1

More Information

• Set Membership: HapMap

Gene Ontology Categories:

Process(es)

positive regulation of GTPase activity

Function(s)

protein binding
Rab guanyl-nucleotide exchange factor activity