Product Details

SNP ID

rs113465793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18445607 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGGAAGGAGAGATGCCCCAAGA[A/C]CCCGTGGCTCGCAGCCCCTAGAACC

Phenotype

MIM: 600284 MIM: 611670

Polymorphism

A/C, Transversion 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		Intron			NP_006523.1
XM_011528330.2		Intron			XP_011526632.2
XM_017027335.1		Intron			XP_016882824.1
XM_017027336.1		Intron			XP_016882825.1
XM_017027337.1		Intron			XP_016882826.1

Gene

ISYNA1

Gene Name

inositol-3-phosphate synthase 1

There are no transcripts associated with this gene.

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