Product Details

SNP ID
rs150313249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6312348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCACTGCTGGCAGACTCTATCCCC[A/G]AGGATACCCTGTGCTGGTGAGTCCA
Phenotype
MIM: 611743
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_001144856.1 367 Missense Mutation CAA,CGA Q41R NP_001138328.1
NM_001144857.1 367 Intron NP_001138329.1
NM_018173.3 367 Missense Mutation CAA,CGA Q41R NP_060643.2
XM_005253704.4 367 Missense Mutation CAA,CGA Q41R XP_005253761.1
XM_006718985.3 367 Missense Mutation CAA,CGA Q41R XP_006719048.1
XM_011520967.2 367 Missense Mutation AAG,GAG K34E XP_011519269.1
XM_017019555.1 367 Missense Mutation CAA,CGA Q41R XP_016875044.1

View Full Product Details