Product Details

SNP ID
rs112557734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6312353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTGGCAGACTCTATCCCCGAGGA[A/T]ACCCTGTGCTGGTGAGTCCAGGCTG
Phenotype
MIM: 611743
Polymorphism
A/T, Transversion 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_001144856.1 372 Missense Mutation AAC,TAC N43Y NP_001138328.1
NM_001144857.1 372 Intron NP_001138329.1
NM_018173.3 372 Missense Mutation AAC,TAC N43Y NP_060643.2
XM_005253704.4 372 Missense Mutation AAC,TAC N43Y XP_005253761.1
XM_006718985.3 372 Missense Mutation AAC,TAC N43Y XP_006719048.1
XM_011520967.2 372 Missense Mutation GAA,GAT E35D XP_011519269.1
XM_017019555.1 372 Missense Mutation AAC,TAC N43Y XP_016875044.1

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