Product Details

SNP ID
rs11711710
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.3:128153663 on Build GRCh38
Set Membership
Validated
Context Sequence [VIC/FAM]
AGCGCGGCATCACGCTCGATCTGGG[C/T]TTCTCGTGCTTCTCGGTGCCGCTGC
Phenotype
MIM: 607695 MIM: 603449
Polymorphism
C/T, Transition 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_021937.4 252 Silent Mutation GGC,GGT G52G NP_068756.2
XM_005247696.2 252 Silent Mutation GGC,GGT G52G XP_005247753.1
XM_011513066.2 252 Intron XP_011511368.1
XM_017006975.1 252 Silent Mutation GGC,GGT G52G XP_016862464.1
XM_017006976.1 252 Silent Mutation GGC,GGT G52G XP_016862465.1
XM_017006977.1 252 Silent Mutation GGC,GGT G52G XP_016862466.1
XM_017006978.1 252 Intron XP_016862467.1
XM_017006979.1 252 Intron XP_016862468.1
XM_017006980.1 252 Silent Mutation GGC,GGT G52G XP_016862469.1
XM_017006981.1 252 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_001319084.1 252 Intron NP_001306013.1
NM_001319086.1 252 UTR 5 NP_001306015.1
NM_003707.2 252 Intron NP_003698.1
XM_005247841.3 252 Intron XP_005247898.1
XM_011513248.1 252 Intron XP_011511550.1
XM_011513249.2 252 Intron XP_011511551.1
XM_017007356.1 252 Intron XP_016862845.1
XM_017007357.1 252 Intron XP_016862846.1

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