Product Details

SNP ID
rs148629338
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:18079953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGATCGGTGGCAAGAAGTCCTC[A/T]CCTGGGTCCTTCAGTATTACCAGGT
Phenotype
MIM: 608666
Polymorphism
A/T, 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_001127649.2 519 Missense Mutation ACC,TCC T104S NP_001121121.1
NM_001199319.1 519 Missense Mutation ACC,TCC T104S NP_001186248.1
NM_017929.5 519 Missense Mutation ACC,TCC T104S NP_060399.1

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