Product Details

SNP ID
rs2279290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:66380387 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTGGCCATTGGAAACAAGCAAGTAC[G/T]GGGCTTCCGCGCGCTCTGGACTGCC
Phenotype
MIM: 608868 MIM: 611037
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LRIG1 PubMed Links

Gene Details

Gene
LRIG1
Gene Name
leucine rich repeats and immunoglobulin like domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015541.2 3698 Missense Mutation CAG,CCG Q1053P NP_056356.2
XM_011533578.1 3698 Missense Mutation CAG,CCG Q1005P XP_011531880.1
XM_011533579.2 3698 Missense Mutation CAG,CCG Q793P XP_011531881.1
XM_017006134.1 3698 Missense Mutation CAG,CCG Q1028P XP_016861623.1
XM_017006135.1 3698 Missense Mutation CAG,CCG Q827P XP_016861624.1
XM_017006136.1 3698 Missense Mutation CAG,CCG Q793P XP_016861625.1
Gene
SLC25A26
Gene Name
solute carrier family 25 member 26
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164796.1 3698 Intron NP_001158268.1
NM_173471.3 3698 Intron NP_775742.4
XM_006712956.1 3698 Intron XP_006713019.1
XM_011533327.2 3698 Intron XP_011531629.1
XM_011533328.1 3698 Intron XP_011531630.1
XM_017005671.1 3698 Intron XP_016861160.1
XM_017005672.1 3698 Intron XP_016861161.1
XM_017005673.1 3698 Intron XP_016861162.1
XM_017005674.1 3698 Intron XP_016861163.1

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