Product Details

SNP ID
rs199753908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:95891132 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTCTTTTGAGCCTGGAGAAAGGC[A/G]CTTTCTTTGTGCATCTAGTTTGATA
Phenotype
MIM: 601874
Polymorphism
A/G, 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 1860 Missense Mutation CGC,TGC R578C NP_036213.2
XM_006714575.2 1860 Missense Mutation CGC,TGC R523C XP_006714638.1
XM_017009239.1 1860 Missense Mutation CGC,TGC R578C XP_016864728.1
XM_017009240.1 1860 Missense Mutation CGC,TGC R446C XP_016864729.1
XM_017009241.1 1860 Missense Mutation CGC,TGC R446C XP_016864730.1
XM_017009242.1 1860 Missense Mutation CGC,TGC R446C XP_016864731.1
XM_017009243.1 1860 Missense Mutation CGC,TGC R393C XP_016864732.1

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