Product Details

SNP ID

rs202006648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:104304014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGAGGCCGACGTAGACCCAAAGC[G/T]CCTGGAGCTCACCGCTGACGAGGAG

Phenotype

MIM: 612986 MIM: 601112

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EID3 PubMed Links

Gene Details

Gene

EID3

Gene Name

EP300 interacting inhibitor of differentiation 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008394.2	283	Missense Mutation	CGC,CTC	R27L	NP_001008395.1

Gene

TXNRD1

Gene Name

thioredoxin reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001093771.2	283	Intron			NP_001087240.1
NM_001261445.1	283	Intron			NP_001248374.1
NM_001261446.1	283	Intron			NP_001248375.1
NM_003330.3	283	Intron			NP_003321.3
NM_182729.2	283	Intron			NP_877393.1
NM_182742.2	283	Intron			NP_877419.1
NM_182743.2	283	Intron			NP_877420.1

View Full Product Details