Product Details

SNP ID

rs151033376

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55937415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCACTCTCATTATAGGCCATTG[C/G]GTACGAGGGATTCCAGCAATTCCTG

Phenotype

MIM: 125855

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DGKA PubMed Links

Gene Details

Gene

DGKA

Gene Name

diacylglycerol kinase alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001345.4	227	Missense Mutation	GCG,GGG	A49G	NP_001336.2
NM_201444.2	227	Missense Mutation	GCG,GGG	A49G	NP_958852.1
NM_201445.1	227	Missense Mutation	GCG,GGG	A49G	NP_958853.1
NM_201554.1	227	Missense Mutation	GCG,GGG	A49G	NP_963848.1
XM_005268688.2	227	Missense Mutation	GCG,GGG	A87G	XP_005268745.1
XM_005268689.2	227	UTR 5			XP_005268746.1
XM_005268690.2	227	UTR 5			XP_005268747.1
XM_011537991.2	227	Missense Mutation	GCG,GGG	A49G	XP_011536293.1
XM_011537993.2	227	Missense Mutation	GCG,GGG	A49G	XP_011536295.1
XM_011537995.2	227	UTR 5			XP_011536297.1
XM_017018900.1	227	Missense Mutation	GCG,GGG	A87G	XP_016874389.1
XM_017018901.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874390.1
XM_017018902.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874391.1
XM_017018903.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874392.1
XM_017018904.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874393.1
XM_017018905.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874394.1
XM_017018906.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874395.1
XM_017018907.1	227	Missense Mutation	GCG,GGG	A49G	XP_016874396.1
XM_017018908.1	227	Missense Mutation	GCG,GGG	A87G	XP_016874397.1
XM_017018909.1	227	UTR 5			XP_016874398.1

Gene

PYM1

Gene Name

PYM homolog 1, exon junction complex associated factor

There are no transcripts associated with this gene.

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