Product Details

SNP ID

rs185005508

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:50376028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTCACTCCTTTCTACTTACTTCA[A/G]TGGGAATACAGGAAGCTGCACCCAT

Phenotype

MIM: 300837

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DGKK PubMed Links

Gene Details

Gene

DGKK

Gene Name

diacylglycerol kinase kappa

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013742.3	3582	Missense Mutation	ACT,ATT	T1137I	NP_001013764.1
XM_017029268.1	3582	Missense Mutation	ACT,ATT	T1137I	XP_016884757.1

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