Product Details

SNP ID
rs138406081
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:2406502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTCACCTTGCTGCTGCACCACGC[A/G]GTGATGCACTCCCAGCAGAACAGGT
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 1023 Silent Mutation ACC,ACT T298T NP_002608.1
NM_153818.1 1023 Silent Mutation ACC,ACT T318T NP_722540.1
XM_011541573.1 1023 Silent Mutation ACC,ACT T317T XP_011539875.1
XM_011541576.1 1023 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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