Product Details

SNP ID
rs11811122
Assay Type
Functionally tested
NCBI dbSNP Submissions
33
Location
Chr.1:2414527 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCCGAGGGTCCTTCCTGAGGGCGAC[T/G]TGAATACGGCGGTCCTATCCTGGGA
Phenotype
MIM: 602859 MIM: 612836
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
PEX10 PubMed Links

Gene Details

Gene
PEX10
Gene Name
peroxisomal biogenesis factor 10
There are no transcripts associated with this gene.

Gene
PLCH2
Gene Name
phospholipase C eta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303012.1 Intron NP_001289941.1
NM_001303013.1 Intron NP_001289942.1
NM_014638.3 Intron NP_055453.2
XM_011542455.2 Intron XP_011540757.1
XM_011542456.2 Intron XP_011540758.1
XM_017002870.1 Intron XP_016858359.1
XM_017002871.1 Intron XP_016858360.1
XM_017002872.1 Intron XP_016858361.1
XM_017002873.1 Intron XP_016858362.1
XM_017002874.1 Intron XP_016858363.1
Gene
RER1
Gene Name
retention in endoplasmic reticulum sorting receptor 1
There are no transcripts associated with this gene.

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