Product Details

SNP ID
rs139850852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:95891264 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCGTTGCTCATAGGAGACGATAG[C/T]GATATATTTTCTAATAAGAAAAAAG
Phenotype
MIM: 601874
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ELL2 PubMed Links

Gene Details

Gene
ELL2
Gene Name
elongation factor for RNA polymerase II 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012081.5 1728 Missense Mutation ACT,GCT T534A NP_036213.2
XM_006714575.2 1728 Missense Mutation ACT,GCT T479A XP_006714638.1
XM_017009239.1 1728 Missense Mutation ACT,GCT T534A XP_016864728.1
XM_017009240.1 1728 Missense Mutation ACT,GCT T402A XP_016864729.1
XM_017009241.1 1728 Missense Mutation ACT,GCT T402A XP_016864730.1
XM_017009242.1 1728 Missense Mutation ACT,GCT T402A XP_016864731.1
XM_017009243.1 1728 Missense Mutation ACT,GCT T349A XP_016864732.1

View Full Product Details