Product Details

SNP ID

rs199937543

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:56834963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGCACCGCAGGGACATCTTCCG[C/G]AAGAGCAAGCACGGGTGGCGCGACA

Phenotype

MIM: 601440

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C17orf67 PubMed Links

Gene Details

Gene

C17orf67

Gene Name

chromosome 17 open reading frame 67

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085430.2	348	Intron			NP_001078899.2
XM_011524735.2	348	Intron			XP_011523037.1

Gene

DGKE

Gene Name

diacylglycerol kinase epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003647.2	348	Silent Mutation	CGC,CGG	R56R	NP_003638.1
XM_011525394.2	348	Silent Mutation	CGC,CGG	R74R	XP_011523696.1
XM_011525395.2	348	Silent Mutation	CGC,CGG	R74R	XP_011523697.1
XM_011525396.2	348	Silent Mutation	CGC,CGG	R74R	XP_011523698.1
XM_017025243.1	348	Silent Mutation	CGC,CGG	R56R	XP_016880732.1
XM_017025244.1	348	Silent Mutation	CGC,CGG	R74R	XP_016880733.1
XM_017025245.1	348	Silent Mutation	CGC,CGG	R74R	XP_016880734.1

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