Product Details

SNP ID
rs34750454
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:31808722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAACTGTCTGATTAGGTCCTTAA[C/T]AGCAGCGACTCGCTGTCTTGGTTCT
Phenotype
MIM: 610577
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP12 PubMed Links

Gene Details

Gene
ARHGAP12
Gene Name
Rho GTPase activating protein 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270695.1 2375 Missense Mutation ATT,GTT I760V NP_001257624.1
NM_001270696.1 2375 Missense Mutation ATT,GTT I735V NP_001257625.1
NM_001270697.1 2375 Missense Mutation ATT,GTT I718V NP_001257626.1
NM_001270698.1 2375 Missense Mutation ATT,GTT I688V NP_001257627.1
NM_001270699.1 2375 Missense Mutation ATT,GTT I713V NP_001257628.1
NM_018287.6 2375 Missense Mutation ATT,GTT I765V NP_060757.4
XM_005252644.1 2375 Missense Mutation ATT,GTT I713V XP_005252701.1
XM_011519761.1 2375 Missense Mutation ATT,GTT I691V XP_011518063.1
XM_017016954.1 2375 Missense Mutation ATT,GTT I661V XP_016872443.1

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