Product Details

SNP ID
rs115932129
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18446370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGCGTCGAGCTGGGTGAACCGC[C/T]GCGTGATGCGCTCAATGCGGGCGTG
Phenotype
MIM: 600284 MIM: 611670
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ELL PubMed Links

Gene Details

Gene
ELL
Gene Name
elongation factor for RNA polymerase II
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006532.3 891 Missense Mutation CAG,CGG Q548R NP_006523.1
XM_011528330.2 891 Intron XP_011526632.2
XM_017027335.1 891 Missense Mutation CAG,CGG Q415R XP_016882824.1
XM_017027336.1 891 Missense Mutation CAG,CGG Q297R XP_016882825.1
XM_017027337.1 891 Missense Mutation CAG,CGG Q264R XP_016882826.1
Gene
ISYNA1
Gene Name
inositol-3-phosphate synthase 1
There are no transcripts associated with this gene.

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