Product Details

SNP ID
rs76829052
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:128153626 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACCGCCGCCTTTGACAAGCAGC[A/C]GCAGAGCCGCGAGCGCGGCATCACG
Phenotype
MIM: 607695 MIM: 603449
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
EEFSEC PubMed Links

Gene Details

Gene
EEFSEC
Gene Name
eukaryotic elongation factor, selenocysteine-tRNA specific
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021937.4 289 Missense Mutation CAG,CCG Q40P NP_068756.2
XM_005247696.2 289 Missense Mutation CAG,CCG Q40P XP_005247753.1
XM_011513066.2 289 Intron XP_011511368.1
XM_017006975.1 289 Missense Mutation CAG,CCG Q40P XP_016862464.1
XM_017006976.1 289 Missense Mutation CAG,CCG Q40P XP_016862465.1
XM_017006977.1 289 Missense Mutation CAG,CCG Q40P XP_016862466.1
XM_017006978.1 289 Intron XP_016862467.1
XM_017006979.1 289 Intron XP_016862468.1
XM_017006980.1 289 Missense Mutation CAG,CCG Q40P XP_016862469.1
XM_017006981.1 289 Intron XP_016862470.1
Gene
RUVBL1
Gene Name
RuvB like AAA ATPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319084.1 289 Intron NP_001306013.1
NM_001319086.1 289 UTR 5 NP_001306015.1
NM_003707.2 289 Intron NP_003698.1
XM_005247841.3 289 Intron XP_005247898.1
XM_011513248.1 289 Intron XP_011511550.1
XM_011513249.2 289 Intron XP_011511551.1
XM_017007356.1 289 Intron XP_016862845.1
XM_017007357.1 289 Intron XP_016862846.1

View Full Product Details