Product Details

SNP ID
rs201484351
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7477357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCAGTGCACGGCGTTGGCCAGGT[C/T]GGCCAGGTTGCTGAGAAGTGACAGC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130955.1 791 Intron NP_001124427.1
NM_015318.3 791 Intron NP_056133.2
XM_005272464.4 791 Intron XP_005272521.1
XM_006722705.3 791 Intron XP_006722768.1
XM_006722706.3 791 Intron XP_006722769.1
XM_006722708.2 791 Intron XP_006722771.1
XM_011527835.2 791 Intron XP_011526137.1
XM_011527836.2 791 Intron XP_011526138.1
XM_011527837.2 791 Intron XP_011526139.1
XM_011527838.2 791 Intron XP_011526140.1
XM_011527839.2 791 Intron XP_011526141.1
XM_011527840.1 791 Intron XP_011526142.1
XM_011527841.2 791 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_001270539.1 791 Intron NP_001257468.1
NM_001300881.1 791 Missense Mutation NP_001287810.1
NM_080662.3 791 Missense Mutation NP_542393.1
XM_005272506.2 791 Missense Mutation XP_005272563.1
XM_011528426.2 791 Intron XP_011526728.1
XM_011528427.2 791 Intron XP_011526729.1
XM_011528428.1 791 Missense Mutation XP_011526730.1
XM_011528429.2 791 Missense Mutation XP_011526731.1
XM_011528431.2 791 Missense Mutation XP_011526733.1
XM_011528432.1 791 Intron XP_011526734.1

View Full Product Details