Product Details

SNP ID

rs11583529

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:111188331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCACAATCTTGACAAAGAACTGC[A/T]CAAAGGGGCCTGAAACATGCTCGTT

Phenotype

MIM: 616751 MIM: 615111

Polymorphism

A/T, 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	1383	Missense Mutation	GAG,GTG	E377V	NP_001258762.1
NM_024901.4	1383	Missense Mutation	GAG,GTG	E380V	NP_079177.2
XM_006710921.2	1383	Missense Mutation	GAG,GTG	E394V	XP_006710984.2
XM_006710922.1	1383	Missense Mutation	GAG,GTG	E324V	XP_006710985.1
XM_006710923.1	1383	Missense Mutation	GAG,GTG	E324V	XP_006710986.1
XM_006710924.1	1383	Missense Mutation	GAG,GTG	E324V	XP_006710987.1
XM_011542187.1	1383	Missense Mutation	GAG,GTG	E368V	XP_011540489.1
XM_011542189.1	1383	Missense Mutation	GAG,GTG	E324V	XP_011540491.1
XM_011542190.2	1383	Missense Mutation	GAG,GTG	E368V	XP_011540492.1
XM_017002386.1	1383	Missense Mutation	GAG,GTG	E200V	XP_016857875.1
XM_017002387.1	1383	Missense Mutation	GAG,GTG	E200V	XP_016857876.1
XM_017002388.1	1383	Missense Mutation	GAG,GTG	E200V	XP_016857877.1
XM_017002389.1	1383	Intron			XP_016857878.1

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