Product Details

SNP ID

rs200121616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151746430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATGCAGACCTTCTTGTTGGGCAG[G/T]TCAATGTCATACTTAACTCCTGCAG

Phenotype

MIM: 602270

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATOX1 PubMed Links

Gene Details

Gene

ATOX1

Gene Name

antioxidant 1 copper chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004045.3	200	Missense Mutation	GAA,GAC	E34D	NP_004036.1

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