Product Details

SNP ID

rs199947250

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55937494 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGACACCTAAGCCTGGCACTGTT[C/T]CAATCCTTTGAGACTGGTCACTGCT

Phenotype

MIM: 125855

Polymorphism

C/T, Transition 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	306	Silent Mutation	TTC,TTT	F75F	NP_001336.2
NM_201444.2	306	Silent Mutation	TTC,TTT	F75F	NP_958852.1
NM_201445.1	306	Silent Mutation	TTC,TTT	F75F	NP_958853.1
NM_201554.1	306	Silent Mutation	TTC,TTT	F75F	NP_963848.1
XM_005268688.2	306	Silent Mutation	TTC,TTT	F113F	XP_005268745.1
XM_005268689.2	306	UTR 5			XP_005268746.1
XM_005268690.2	306	UTR 5			XP_005268747.1
XM_011537991.2	306	Silent Mutation	TTC,TTT	F75F	XP_011536293.1
XM_011537993.2	306	Silent Mutation	TTC,TTT	F75F	XP_011536295.1
XM_011537995.2	306	UTR 5			XP_011536297.1
XM_017018900.1	306	Silent Mutation	TTC,TTT	F113F	XP_016874389.1
XM_017018901.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874390.1
XM_017018902.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874391.1
XM_017018903.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874392.1
XM_017018904.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874393.1
XM_017018905.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874394.1
XM_017018906.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874395.1
XM_017018907.1	306	Silent Mutation	TTC,TTT	F75F	XP_016874396.1
XM_017018908.1	306	Silent Mutation	TTC,TTT	F113F	XP_016874397.1
XM_017018909.1	306	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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