Product Details

SNP ID

rs192915815

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:50371729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATTCCCAAGATTACGCACCTCTG[A/G]AACAAAGATTGGATTCATCCAGTCA

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	3692	Missense Mutation	CCA,TCA	P1203S	NP_001013764.1
XM_017029268.1	3692	Missense Mutation	CCA,TCA	P1174S	XP_016884757.1

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