Product Details

SNP ID
rs138212752
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:20729171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGTGTCTTGGAACAAACGTGCAC[A/C]TCTTCACTCCAAGGAGTTCTGCTGC
Phenotype
MIM: 607587
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
EEF1AKMT1 PubMed Links

Gene Details

Gene
EEF1AKMT1
Gene Name
eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318939.1 675 Missense Mutation AGG,ATG R185M NP_001305868.1
NM_174928.2 675 Missense Mutation AGG,ATG R185M NP_777588.1
XM_017020432.1 675 Missense Mutation AGG,ATG R185M XP_016875921.1
Gene
IL17D
Gene Name
interleukin 17D
There are no transcripts associated with this gene.

View Full Product Details