Product Details

SNP ID
rs199594269
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18446474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTCCGAAGAGGAGATGGCTGC[A/G]TACTTCCTGAAACAGGAGAGAGGGG
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_006532.3 787 Silent Mutation TAC,TAT Y513Y NP_006523.1
XM_011528330.2 787 Intron XP_011526632.2
XM_017027335.1 787 Silent Mutation TAC,TAT Y380Y XP_016882824.1
XM_017027336.1 787 Silent Mutation TAC,TAT Y262Y XP_016882825.1
XM_017027337.1 787 Silent Mutation TAC,TAT Y229Y XP_016882826.1
Gene
ISYNA1
Gene Name
inositol-3-phosphate synthase 1
There are no transcripts associated with this gene.

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