Product Details

SNP ID

rs146413382

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2903410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGGCAGGATGAGCGCTCTAGGCC[A/G]GTCCTCGGTCATCTTGCTTACCTAC

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	438	Missense Mutation	CAG,CGG	Q107R	NP_001302430.1
NM_001315502.1	438	Missense Mutation	CAG,CGG	Q22R	NP_001302431.1
NM_002555.5	438	Missense Mutation	CAG,CGG	Q22R	NP_002546.3
NM_183233.2	438	Missense Mutation	CAG,CGG	Q22R	NP_899056.2
XM_011520141.2	438	Missense Mutation	CAG,CGG	Q107R	XP_011518443.2
XM_011520142.2	438	Missense Mutation	CAG,CGG	Q107R	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	438	Intron			NP_001289791.1
NM_007105.3	438	Intron			NP_009036.2
XM_017017832.1	438	Intron			XP_016873321.1
XM_017017833.1	438	Intron			XP_016873322.1
XM_017017834.1	438	Intron			XP_016873323.1
XM_017017835.1	438	Intron			XP_016873324.1
XM_017017836.1	438	Intron			XP_016873325.1

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