Product Details

SNP ID
rs201149149
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:120330140 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATCATGGCCCTTGTGCTTGGGGA[G/T]TCTGGCACAGAGGTCAATGCAGTCC
Phenotype
MIM: 604763
Polymorphism
G/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
TMEM136
Gene Name
transmembrane protein 136
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198670.1 593 Missense Mutation GAG,GAT E143D NP_001185599.1
NM_001198671.1 593 Missense Mutation GAG,GAT E121D NP_001185600.1
NM_001198672.1 593 Missense Mutation GAG,GAT E20D NP_001185601.1
NM_001198673.1 593 Missense Mutation GAG,GAT E20D NP_001185602.1
NM_001198674.1 593 Intron NP_001185603.1
NM_001198675.1 593 Missense Mutation GAG,GAT E20D NP_001185604.1
NM_174926.2 593 Intron NP_777586.1
XM_017017327.1 593 Intron XP_016872816.1

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