Product Details

SNP ID

rs200859501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1105259 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGCCAAGGACATCGACGGGCACA[C/T]GGTTAACCTGGACAAGTACCGGTGG

Phenotype

MIM: 138322 MIM: 180664 MIM: 615729

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GPX4 PubMed Links

Gene Details

Gene

GPX4

Gene Name

glutathione peroxidase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039847.2	354	Missense Mutation	ACG,ATG	T53M	NP_001034936.1
NM_001039848.2	354	Missense Mutation	ACG,ATG	T90M	NP_001034937.1
NM_002085.4	354	Missense Mutation	ACG,ATG	T53M	NP_002076.2

Gene

POLR2E

Gene Name

RNA polymerase II subunit E

There are no transcripts associated with this gene.

Gene

SBNO2

Gene Name

strawberry notch homolog 2

There are no transcripts associated with this gene.

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