Product Details

SNP ID
rs193275878
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:120330205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTACCAACCCCTTGCTACAGATGC[A/G]CTGGTTTCTCCGGGAAACAGGGCAC
Phenotype
MIM: 604763
Polymorphism
A/G, Transition 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_001198670.1 658 Missense Mutation CAC,CGC H165R NP_001185599.1
NM_001198671.1 658 Missense Mutation CAC,CGC H143R NP_001185600.1
NM_001198672.1 658 Missense Mutation CAC,CGC H42R NP_001185601.1
NM_001198673.1 658 Missense Mutation CAC,CGC H42R NP_001185602.1
NM_001198674.1 658 Intron NP_001185603.1
NM_001198675.1 658 Missense Mutation CAC,CGC H42R NP_001185604.1
NM_174926.2 658 Intron NP_777586.1
XM_017017327.1 658 Intron XP_016872816.1

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