Product Details

SNP ID
rs200449747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:82138668 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTTGGATTTTTACCTCCCAATGG[C/T]TGAATACTAGTTGTGGGCTGGCCAG
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 3180 Missense Mutation AAC,AGC N1004S NP_001035700.1
NM_001322844.1 3180 Missense Mutation AAC,AGC N792S NP_001309773.1
NM_001322845.1 3180 Missense Mutation AAC,AGC N1055S NP_001309774.1
NM_024580.5 3180 Missense Mutation AAC,AGC N1055S NP_078856.4
XM_011522000.1 3180 Missense Mutation AAC,AGC N792S XP_011520302.1

View Full Product Details