Product Details

SNP ID
rs118050816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7477121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAGGCAGCTCCATGAGAGCCCC[A/G]GCCCCTGCCCTGGCGGCTTCTGCTT
Phenotype
MIM: 616432 MIM: 607583
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGEF18 PubMed Links

Gene Details

Gene
ARHGEF18
Gene Name
Rho/Rac guanine nucleotide exchange factor 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130955.1 1027 Intron NP_001124427.1
NM_015318.3 1027 Intron NP_056133.2
XM_005272464.4 1027 Intron XP_005272521.1
XM_006722705.3 1027 Intron XP_006722768.1
XM_006722706.3 1027 Intron XP_006722769.1
XM_006722708.2 1027 Intron XP_006722771.1
XM_011527835.2 1027 Intron XP_011526137.1
XM_011527836.2 1027 Intron XP_011526138.1
XM_011527837.2 1027 Intron XP_011526139.1
XM_011527838.2 1027 Intron XP_011526140.1
XM_011527839.2 1027 Intron XP_011526141.1
XM_011527840.1 1027 Intron XP_011526142.1
XM_011527841.2 1027 Intron XP_011526143.1
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 1027 UTR 3 NP_001257468.1
NM_001300881.1 1027 UTR 3 NP_001287810.1
NM_080662.3 1027 UTR 3 NP_542393.1
XM_005272506.2 1027 UTR 3 XP_005272563.1
XM_011528426.2 1027 Intron XP_011526728.1
XM_011528427.2 1027 Intron XP_011526729.1
XM_011528428.1 1027 UTR 3 XP_011526730.1
XM_011528429.2 1027 UTR 3 XP_011526731.1
XM_011528431.2 1027 UTR 3 XP_011526733.1
XM_011528432.1 1027 UTR 3 XP_011526734.1

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