Product Details

SNP ID
rs201024136
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:110579542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTCCTCATGTGACTTCATGCAC[A/T]GCTTAAGTCTGCTCTCCACCAGGCT
Phenotype
MIM: 609568
Polymorphism
A/T, Transversion 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 3510 Missense Mutation CAG,CTG Q1112L NP_001245344.1
NM_001258416.1 3510 Missense Mutation CAG,CTG Q1109L NP_001245345.1
NM_001258417.1 3510 Missense Mutation CAG,CTG Q1099L NP_001245346.1
NM_001258418.1 3510 Missense Mutation CAG,CTG Q1099L NP_001245347.1
NM_020809.3 3510 Missense Mutation CAG,CTG Q1135L NP_065860.2
XM_005271628.3 3510 Missense Mutation CAG,CTG Q678L XP_005271685.1
XM_006718893.3 3510 Missense Mutation CAG,CTG Q1135L XP_006718956.1

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