Product Details

SNP ID
rs4610720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:76982534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATAACATTACAACTGAGGCGGCC[A/G]AGCACAGTGGCTCACGTCTGTAATC
Phenotype
MIM: 170993
Polymorphism
A/G, Transition 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 2103 UTR 3 NP_000309.1
NM_001079867.1 2103 UTR 3 NP_001073336.1
NM_001172086.1 2103 UTR 3 NP_001165557.1
NM_001172087.1 2103 UTR 3 NP_001165558.1

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