Product Details

SNP ID
rs200279475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:18078408 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGATTCTTCGACCTCTGCAGCCC[C/T]CCTCAGGGGGCTCGGGGGACCCCTG
Phenotype
MIM: 608666
Polymorphism
C/T, Transition 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_001127649.2 241 Missense Mutation CCC,CTC P11L NP_001121121.1
NM_001199319.1 241 Missense Mutation CCC,CTC P11L NP_001186248.1
NM_017929.5 241 Missense Mutation CCC,CTC P11L NP_060399.1

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