Product Details

SNP ID

rs139597518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43774225 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCCGAACTCTTTTAATCTCTGCT[C/T]CCAGCTCTATGAACCTTTGGCTTGC

Phenotype

MIM: 609885 MIM: 602046 MIM: 605054

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ELL3 PubMed Links

Gene Details

Gene

ELL3

Gene Name

elongation factor for RNA polymerase II 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025165.2	1398	Missense Mutation	GAA,GGA	E332G	NP_079441.1

Gene

PDIA3

Gene Name

protein disulfide isomerase family A member 3

There are no transcripts associated with this gene.

Gene

SERF2

Gene Name

small EDRK-rich factor 2

There are no transcripts associated with this gene.

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