Product Details

SNP ID

rs146484834

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:56834966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACCGCAGGGACATCTTCCGCAA[A/G]AGCAAGCACGGGTGGCGCGACACGG

Phenotype

MIM: 601440

Polymorphism

A/G, 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	351	Intron			NP_001078899.2
XM_011524735.2	351	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	351	Silent Mutation	AAA,AAG	K57K	NP_003638.1
XM_011525394.2	351	Silent Mutation	AAA,AAG	K75K	XP_011523696.1
XM_011525395.2	351	Silent Mutation	AAA,AAG	K75K	XP_011523697.1
XM_011525396.2	351	Silent Mutation	AAA,AAG	K75K	XP_011523698.1
XM_017025243.1	351	Silent Mutation	AAA,AAG	K57K	XP_016880732.1
XM_017025244.1	351	Silent Mutation	AAA,AAG	K75K	XP_016880733.1
XM_017025245.1	351	Silent Mutation	AAA,AAG	K75K	XP_016880734.1

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