Product Details

SNP ID
rs201661104
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7478338 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGTGAAGGGCGCCGTGGGGCTC[C/T]GCAGCCTCTGTCTCAGTTTCAGCAG
Phenotype
MIM: 616432 MIM: 607583
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGEF18 PubMed Links

Gene Details

Gene
ARHGEF18
Gene Name
Rho/Rac guanine nucleotide exchange factor 18
There are no transcripts associated with this gene.

Gene
LOC100128573
Gene Name
uncharacterized LOC100128573
There are no transcripts associated with this gene.

Gene
PEX11G
Gene Name
peroxisomal biogenesis factor 11 gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270539.1 687 Missense Mutation CAG,CGG Q156R NP_001257468.1
NM_001300881.1 687 Missense Mutation CAG,CGG Q86R NP_001287810.1
NM_080662.3 687 Missense Mutation CAG,CGG Q156R NP_542393.1
XM_005272506.2 687 Intron XP_005272563.1
XM_011528426.2 687 Intron XP_011526728.1
XM_011528427.2 687 Intron XP_011526729.1
XM_011528428.1 687 Missense Mutation CAG,CGG Q86R XP_011526730.1
XM_011528429.2 687 Missense Mutation CAG,CGG Q86R XP_011526731.1
XM_011528431.2 687 Missense Mutation CAG,CGG Q86R XP_011526733.1
XM_011528432.1 687 Intron XP_011526734.1

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