Product Details

SNP ID
rs141552085
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64749420 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCTGCGCCTTGACGCGGATGCT[C/T]TGGGACTCGTTGATGGCGGTGCTCA
Phenotype
MIM: 182870
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLEKHG3 PubMed Links

Gene Details

Gene
PLEKHG3
Gene Name
pleckstrin homology and RhoGEF domain containing G3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308147.1 7142 Intron NP_001295076.1
Gene
SPTB
Gene Name
spectrin beta, erythrocytic
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000347.5 7142 Intron NP_000338.3
NM_001024858.2 7142 Silent Mutation CAA,CAG Q2291Q NP_001020029.1
XM_005268023.4 7142 Silent Mutation CAA,CAG Q2291Q XP_005268080.1
XM_011537105.2 7142 Intron XP_011535407.1
XM_017021612.1 7142 Silent Mutation CAA,CAG Q2291Q XP_016877101.1
XM_017021613.1 7142 UTR 3 XP_016877102.1
XM_017021614.1 7142 Intron XP_016877103.1

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