Product Details

SNP ID
rs142055049
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18446763 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACACTCACAGCAAGTAGTCAGGC[A/G]TCTCCGACGTGGACGTGGGAACACT
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_006532.3 765 Missense Mutation ACG,ATG T506M NP_006523.1
XM_011528330.2 765 Intron XP_011526632.2
XM_017027335.1 765 Missense Mutation ACG,ATG T373M XP_016882824.1
XM_017027336.1 765 Missense Mutation ACG,ATG T255M XP_016882825.1
XM_017027337.1 765 Missense Mutation ACG,ATG T222M XP_016882826.1
Gene
ISYNA1
Gene Name
inositol-3-phosphate synthase 1
There are no transcripts associated with this gene.

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