Product Details

SNP ID
rs142645936
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:76983431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTATGGTGTGAGGCATGGTGGGCC[A/G]CTCTCCACATAGAGCGCATTCTTTG
Phenotype
MIM: 170993
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC105375907 PubMed Links

Gene Details

Gene
LOC105375907
Gene Name
uncharacterized LOC105375907
There are no transcripts associated with this gene.

Gene
PEX2
Gene Name
peroxisomal biogenesis factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000318.2 1206 Missense Mutation CGG,TGG R250W NP_000309.1
NM_001079867.1 1206 Missense Mutation CGG,TGG R250W NP_001073336.1
NM_001172086.1 1206 Missense Mutation CGG,TGG R250W NP_001165557.1
NM_001172087.1 1206 Missense Mutation CGG,TGG R250W NP_001165558.1

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