Product Details

SNP ID
rs148668544
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:100992515 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTTTAAGAAACAAAGATAGTTT[G/T]CTGAACATTCTGTGTCCTGCCTGTC
Phenotype
MIM: 615936
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP42 PubMed Links

Gene Details

Gene
ARHGAP42
Gene Name
Rho GTPase activating protein 42
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152432.2 436 Intron NP_689645.2
XM_011542615.2 436 UTR 3 XP_011540917.1
XM_011542616.2 436 UTR 3 XP_011540918.1
XM_011542617.2 436 UTR 3 XP_011540919.1
XM_017017237.1 436 UTR 3 XP_016872726.1
XM_017017238.1 436 UTR 3 XP_016872727.1
Gene
TMEM133
Gene Name
transmembrane protein 133
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032021.2 436 Missense Mutation TTG,TTT L69F NP_114410.1

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