Product Details

SNP ID
rs200324699
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:56835106 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGCTGCCTCAGGAAGGCCGACA[A/G]GCGCTTCCAGTGCAAGGAGATTATG
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
There are no transcripts associated with this gene.

Gene
DGKE
Gene Name
diacylglycerol kinase epsilon
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003647.2 491 Missense Mutation AAG,AGG K104R NP_003638.1
XM_011525394.2 491 Missense Mutation AAG,AGG K122R XP_011523696.1
XM_011525395.2 491 Missense Mutation AAG,AGG K122R XP_011523697.1
XM_011525396.2 491 Missense Mutation AAG,AGG K122R XP_011523698.1
XM_017025243.1 491 Missense Mutation AAG,AGG K104R XP_016880732.1
XM_017025244.1 491 Missense Mutation AAG,AGG K122R XP_016880733.1
XM_017025245.1 491 Missense Mutation AAG,AGG K122R XP_016880734.1

View Full Product Details