Product Details

SNP ID
rs78620392
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:2406500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACCTCACCTTGCTGCTGCACCAC[A/G]CGGTGATGCACTCCCAGCAGAACAG
Phenotype
MIM: 602859 MIM: 612836
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEX10 PubMed Links

Gene Details

Gene
PEX10
Gene Name
peroxisomal biogenesis factor 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002617.3 1025 Missense Mutation GCG,GTG A299V NP_002608.1
NM_153818.1 1025 Missense Mutation GCG,GTG A319V NP_722540.1
XM_011541573.1 1025 Missense Mutation GCG,GTG A318V XP_011539875.1
XM_011541576.1 1025 Intron XP_011539878.1
Gene
PLCH2
Gene Name
phospholipase C eta 2
There are no transcripts associated with this gene.

Gene
RER1
Gene Name
retention in endoplasmic reticulum sorting receptor 1
There are no transcripts associated with this gene.

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