Product Details

SNP ID
rs200346150
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6329326 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCGCAGCCTCATCTGAGAAGAC[C/T]GGGCGCGGGCGGGAGGGCGGCGGGG
Phenotype
MIM: 611743 MIM: 191190
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PLEKHG6 PubMed Links

Gene Details

Gene
PLEKHG6
Gene Name
pleckstrin homology and RhoGEF domain containing G6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144856.1 1657 Intron NP_001138328.1
NM_001144857.1 1657 Intron NP_001138329.1
NM_018173.3 1657 Intron NP_060643.2
XM_005253704.4 1657 Intron XP_005253761.1
XM_006718985.3 1657 Intron XP_006719048.1
XM_011520967.2 1657 Intron XP_011519269.1
XM_017019555.1 1657 Intron XP_016875044.1
Gene
TNFRSF1A
Gene Name
TNF receptor superfamily member 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001065.3 1657 Missense Mutation AGT,GGT S452G NP_001056.1

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