Product Details

SNP ID
rs143816875
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18446383 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTGAACCGCCGCGTGATGCGCT[C/T]AATGCGGGCGTGCAGGTCGCGGTAC
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_006532.3 878 Missense Mutation AAG,GAG K544E NP_006523.1
XM_011528330.2 878 Intron XP_011526632.2
XM_017027335.1 878 Missense Mutation AAG,GAG K411E XP_016882824.1
XM_017027336.1 878 Missense Mutation AAG,GAG K293E XP_016882825.1
XM_017027337.1 878 Missense Mutation AAG,GAG K260E XP_016882826.1
Gene
ISYNA1
Gene Name
inositol-3-phosphate synthase 1
There are no transcripts associated with this gene.

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