Product Details

SNP ID

rs146866423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:56834830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGGCGGCCGGCGCCGGGCTCGC[C/T]CTCCGAGGGCCTGTTTGCGGACGGG

Phenotype

MIM: 601440

Polymorphism

C/T, Transition 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	215	Intron			NP_001078899.2
XM_011524735.2	215	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	215	Missense Mutation	CCC,CTC	P12L	NP_003638.1
XM_011525394.2	215	Missense Mutation	CCC,CTC	P30L	XP_011523696.1
XM_011525395.2	215	Missense Mutation	CCC,CTC	P30L	XP_011523697.1
XM_011525396.2	215	Missense Mutation	CCC,CTC	P30L	XP_011523698.1
XM_017025243.1	215	Missense Mutation	CCC,CTC	P12L	XP_016880732.1
XM_017025244.1	215	Missense Mutation	CCC,CTC	P30L	XP_016880733.1
XM_017025245.1	215	Missense Mutation	CCC,CTC	P30L	XP_016880734.1

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