Product Details

SNP ID
rs200417489
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:110579440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAGGCCCTGAGTCTGGGCTGGTC[A/G]CATCCTCTAGAGTCCAAGAGCTGGC
Phenotype
MIM: 609568
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP20 PubMed Links

Gene Details

Gene
ARHGAP20
Gene Name
Rho GTPase activating protein 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258415.1 3612 Missense Mutation GCG,GTG A1146V NP_001245344.1
NM_001258416.1 3612 Missense Mutation GCG,GTG A1143V NP_001245345.1
NM_001258417.1 3612 Missense Mutation GCG,GTG A1133V NP_001245346.1
NM_001258418.1 3612 Missense Mutation GCG,GTG A1133V NP_001245347.1
NM_020809.3 3612 Missense Mutation GCG,GTG A1169V NP_065860.2
XM_005271628.3 3612 Missense Mutation GCG,GTG A712V XP_005271685.1
XM_006718893.3 3612 Missense Mutation GCG,GTG A1169V XP_006718956.1

View Full Product Details