Product Details

SNP ID
rs1048047
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:2903380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCGGGCTCCCAGGGACCAGGGCC[A/G]GTCCCCCGGCAGGATGAGCGCTCTA
Phenotype
MIM: 602631 MIM: 603240
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
SLC22A18 PubMed Links

Gene Details

Gene
SLC22A18
Gene Name
solute carrier family 22 member 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001315501.1 408 Missense Mutation CAG,CGG Q97R NP_001302430.1
NM_001315502.1 408 Missense Mutation CAG,CGG Q12R NP_001302431.1
NM_002555.5 408 Missense Mutation CAG,CGG Q12R NP_002546.3
NM_183233.2 408 Missense Mutation CAG,CGG Q12R NP_899056.2
XM_011520141.2 408 Missense Mutation CAG,CGG Q97R XP_011518443.2
XM_011520142.2 408 Missense Mutation CAG,CGG Q97R XP_011518444.2
Gene
SLC22A18AS
Gene Name
solute carrier family 22 member 18 antisense
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302862.1 408 Intron NP_001289791.1
NM_007105.3 408 Intron NP_009036.2
XM_017017832.1 408 Intron XP_016873321.1
XM_017017833.1 408 Intron XP_016873322.1
XM_017017834.1 408 Intron XP_016873323.1
XM_017017835.1 408 Intron XP_016873324.1
XM_017017836.1 408 Intron XP_016873325.1

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