Product Details

SNP ID

rs281865138

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:62813492 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGGATATGGGTGGTGAGGTGGTC[C/A]CTGCGGCTGAAGTTGCGCATGCAGA

Phenotype

MIM: 611392 MIM: 129010

Polymorphism

C/A, Transversion Substitution

Allele Nomenclature

Literature Links

ADO PubMed Links

Additional Information

For this assay, SNP(s) [rs45602133] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ADO

Gene Name

2-aminoethanethiol dioxygenase

There are no transcripts associated with this gene.

Gene

EGR2

Gene Name

early growth response 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000399.4	1355	Missense Mutation	AGG,AGT	R382S	NP_000390.2
NM_001136177.2	1355	Missense Mutation	AGG,AGT	R382S	NP_001129649.1
NM_001136178.1	1355	Missense Mutation	AGG,AGT	R382S	NP_001129650.1
NM_001136179.2	1355	Missense Mutation	AGG,AGT	R332S	NP_001129651.1
NM_001321037.1	1355	Missense Mutation	AGG,AGT	R332S	NP_001307966.1
XM_011539427.1	1355	Missense Mutation	AGG,AGT	R395S	XP_011537729.1

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