Product Details

SNP ID
rs140890506
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:2405770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCCCACCCGGGCGCCGGCTCAG[C/T]GGTAGTGCCGAAGGTAGATGAGCTT
Phenotype
MIM: 602859 MIM: 612836
Polymorphism
C/T, 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 1106 Missense Mutation CAC,CGC H326R NP_002608.1
NM_153818.1 1106 Missense Mutation CAC,CGC H346R NP_722540.1
XM_011541573.1 1106 Missense Mutation CAC,CGC H345R XP_011539875.1
XM_011541576.1 1106 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007033.4 1106 Intron NP_008964.3
XM_005244713.4 1106 Intron XP_005244770.2
XM_006710306.2 1106 Intron XP_006710369.1
XM_011540542.1 1106 Intron XP_011538844.1
XM_011540543.1 1106 Intron XP_011538845.1
XM_017000131.1 1106 Intron XP_016855620.1
XM_017000132.1 1106 Intron XP_016855621.1
XM_017000133.1 1106 Intron XP_016855622.1
XM_017000134.1 1106 Intron XP_016855623.1
XM_017000135.1 1106 Intron XP_016855624.1

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