Product Details

SNP ID

rs150100247

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:111187660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTTCTTCTGTTCCTCATATTCA[A/C]GTATTTTCTGTTGGAAATAGCCTGT

Phenotype

MIM: 616751 MIM: 615111

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CEPT1 PubMed Links

Gene Details

Gene

CEPT1

Gene Name

choline/ethanolamine phosphotransferase 1

There are no transcripts associated with this gene.

Gene

DENND2D

Gene Name

DENN domain containing 2D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271833.1	1605	Missense Mutation	CGT,CTT	R451L	NP_001258762.1
NM_024901.4	1605	Missense Mutation	CGT,CTT	R454L	NP_079177.2
XM_006710921.2	1605	Missense Mutation	CGT,CTT	R468L	XP_006710984.2
XM_006710922.1	1605	Missense Mutation	CGT,CTT	R398L	XP_006710985.1
XM_006710923.1	1605	Missense Mutation	CGT,CTT	R398L	XP_006710986.1
XM_006710924.1	1605	Missense Mutation	CGT,CTT	R398L	XP_006710987.1
XM_011542187.1	1605	Missense Mutation	CGT,CTT	R442L	XP_011540489.1
XM_011542189.1	1605	Missense Mutation	CGT,CTT	R398L	XP_011540491.1
XM_011542190.2	1605	Missense Mutation	CGT,CTT	R442L	XP_011540492.1
XM_017002386.1	1605	Missense Mutation	CGT,CTT	R274L	XP_016857875.1
XM_017002387.1	1605	Missense Mutation	CGT,CTT	R274L	XP_016857876.1
XM_017002388.1	1605	Missense Mutation	CGT,CTT	R274L	XP_016857877.1
XM_017002389.1	1605	Intron			XP_016857878.1

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