Product Details

SNP ID
rs143321120
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:120327504 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGTGGCTGGCTCTCGCTCTATAT[A/T]TCTTTCTGCCACCTGAATAAGCACC
Phenotype
MIM: 604763 MIM: 607394
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ARHGEF12 PubMed Links

Gene Details

Gene
ARHGEF12
Gene Name
Rho guanine nucleotide exchange factor 12
There are no transcripts associated with this gene.

Gene
POU2F3
Gene Name
POU class 2 homeobox 3
There are no transcripts associated with this gene.

Gene
TMEM136
Gene Name
transmembrane protein 136
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198670.1 293 Silent Mutation ATA,ATT I43I NP_001185599.1
NM_001198671.1 293 Silent Mutation ATA,ATT I21I NP_001185600.1
NM_001198672.1 293 UTR 5 NP_001185601.1
NM_001198673.1 293 UTR 5 NP_001185602.1
NM_001198674.1 293 Silent Mutation ATA,ATT I21I NP_001185603.1
NM_001198675.1 293 Intron NP_001185604.1
NM_174926.2 293 Silent Mutation ATA,ATT I43I NP_777586.1
XM_017017327.1 293 Silent Mutation ATA,ATT I43I XP_016872816.1

View Full Product Details