Product Details

SNP ID

rs1048046

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2903361 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCCAGGATGCAGGGAGCTCGG[A/G]CTCCCAGGGACCAGGGCCGGTCCCC

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	389	Missense Mutation	ACT,GCT	T91A	NP_001302430.1
NM_001315502.1	389	Missense Mutation	ACT,GCT	T6A	NP_001302431.1
NM_002555.5	389	Missense Mutation	ACT,GCT	T6A	NP_002546.3
NM_183233.2	389	Missense Mutation	ACT,GCT	T6A	NP_899056.2
XM_011520141.2	389	Missense Mutation	ACT,GCT	T91A	XP_011518443.2
XM_011520142.2	389	Missense Mutation	ACT,GCT	T91A	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	389	Intron			NP_001289791.1
NM_007105.3	389	Intron			NP_009036.2
XM_017017832.1	389	Intron			XP_016873321.1
XM_017017833.1	389	Intron			XP_016873322.1
XM_017017834.1	389	Intron			XP_016873323.1
XM_017017835.1	389	Intron			XP_016873324.1
XM_017017836.1	389	Intron			XP_016873325.1

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