Product Details

SNP ID
rs143663491
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100856891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGCCACAGGGCCCAGTGGGCTC[C/T]GGGTCCTGCCCCAGGGCTACGGCTG
Phenotype
MIM: 616861
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC12A9 PubMed Links

Gene Details

Gene
SLC12A9
Gene Name
solute carrier family 12 member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267812.1 632 Missense Mutation CGG,TGG R158W NP_001254741.1
NM_001267814.1 632 Missense Mutation CGG,TGG R69W NP_001254743.1
NM_020246.3 632 Missense Mutation CGG,TGG R158W NP_064631.2
XM_005250502.2 632 Missense Mutation CGG,TGG R69W XP_005250559.1
XM_005250504.4 632 Intron XP_005250561.1
XM_006716054.2 632 Missense Mutation CGG,TGG R69W XP_006716117.1
XM_006716055.2 632 Intron XP_006716118.1
XM_011516414.1 632 Intron XP_011514716.1

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