Product Details

SNP ID
rs1062460
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6329380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAGCGCCTCCTCGATGTCCTCCA[A/G]GCAGCCCAGCAGGTCCATGTCGCGG
Phenotype
MIM: 611743 MIM: 191190
Polymorphism
A/G, 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 1603 Intron NP_001138328.1
NM_001144857.1 1603 Intron NP_001138329.1
NM_018173.3 1603 Intron NP_060643.2
XM_005253704.4 1603 Intron XP_005253761.1
XM_006718985.3 1603 Intron XP_006719048.1
XM_011520967.2 1603 Intron XP_011519269.1
XM_017019555.1 1603 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 1603 Silent Mutation CTG,TTG L434L NP_001056.1

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