Product Details

SNP ID

rs150910351

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:111147773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGATTCTCACCCGGAGTCCCCAG[C/T]GGGCTTCGGGCATATGAGTACTACA

Phenotype

MIM: 616751 MIM: 613360

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEPT1 PubMed Links

Gene Details

Gene

CEPT1

Gene Name

choline/ethanolamine phosphotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_006710285.3	229	Missense Mutation	GCG,GTG	A20V	XP_006710348.1
XM_011540496.1	229	Missense Mutation	GCG,GTG	A20V	XP_011538798.1

Gene

DRAM2

Gene Name

DNA damage regulated autophagy modulator 2

There are no transcripts associated with this gene.

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