Product Details

SNP ID
rs202135131
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18444854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCGCAGCGGTGCTTCTCCTGGCT[A/G]TAGTTGGTGTTGGTCTGTGGGACAG
Phenotype
MIM: 600284 MIM: 611670
Polymorphism
A/G, 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 1012 Silent Mutation TAC,TAT Y588Y NP_006523.1
XM_011528330.2 1012 Intron XP_011526632.2
XM_017027335.1 1012 Silent Mutation TAC,TAT Y455Y XP_016882824.1
XM_017027336.1 1012 Silent Mutation TAC,TAT Y337Y XP_016882825.1
XM_017027337.1 1012 Silent Mutation TAC,TAT Y304Y XP_016882826.1
Gene
ISYNA1
Gene Name
inositol-3-phosphate synthase 1
There are no transcripts associated with this gene.

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