Product Details

SNP ID
rs72749527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:82138804 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCTTTCATTTCTTCTTGAAGTA[C/T]CCGACCTTCTCTCTTTGACAAGACA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EFL1 PubMed Links

Gene Details

Gene
EFL1
Gene Name
elongation factor like GTPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040610.2 3044 Missense Mutation ATA,GTA I959V NP_001035700.1
NM_001322844.1 3044 Missense Mutation ATA,GTA I747V NP_001309773.1
NM_001322845.1 3044 Missense Mutation ATA,GTA I1010V NP_001309774.1
NM_024580.5 3044 Missense Mutation ATA,GTA I1010V NP_078856.4
XM_011522000.1 3044 Missense Mutation ATA,GTA I747V XP_011520302.1

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