Product Details

SNP ID

rs78045204

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:76982942 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCCAGAGTCTCCAAAATCTTTA[C/T]CTTTAGAATCCAACCTTGTTTTAAG

Phenotype

MIM: 170993

Polymorphism

C/T, 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	1695	UTR 3			NP_000309.1
NM_001079867.1	1695	UTR 3			NP_001073336.1
NM_001172086.1	1695	UTR 3			NP_001165557.1
NM_001172087.1	1695	UTR 3			NP_001165558.1

View Full Product Details