Product Details

SNP ID

rs116949534

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:76981660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAATGCTATTTTTTATGCATTAT[A/T]ATAATTTTGTAAATAAGAAATGTAC

Phenotype

MIM: 170993

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PEX2 PubMed Links

Gene Details

Gene

PEX2

Gene Name

peroxisomal biogenesis factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000318.2	2977	UTR 3			NP_000309.1
NM_001079867.1	2977	UTR 3			NP_001073336.1
NM_001172086.1	2977	UTR 3			NP_001165557.1
NM_001172087.1	2977	UTR 3			NP_001165558.1

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