Product Details

SNP ID
rs200178985
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:18078442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCGGGGGACCCCTGCGCAGCAG[C/G]GAGCCGGTGCGCGCGGTCCCGGCCC
Phenotype
MIM: 608666
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PEX26 PubMed Links

Gene Details

Gene
PEX26
Gene Name
peroxisomal biogenesis factor 26
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127649.2 275 Missense Mutation AGC,AGG S22R NP_001121121.1
NM_001199319.1 275 Missense Mutation AGC,AGG S22R NP_001186248.1
NM_017929.5 275 Missense Mutation AGC,AGG S22R NP_060399.1

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