Product Details

SNP ID
rs140282953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100854285 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGCCAATGGGGCCGGGGGTCCT[A/G]GAGGGGCGTCTGCCCGGAAGCTGTC
Phenotype
MIM: 616861
Polymorphism
A/G, 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_001267812.1 230 Missense Mutation AGA,GGA R30G NP_001254741.1
NM_001267814.1 230 Missense Mutation AGA,GGA R30G NP_001254743.1
NM_020246.3 230 Missense Mutation AGA,GGA R30G NP_064631.2
XM_005250502.2 230 Missense Mutation AGA,GGA R30G XP_005250559.1
XM_005250504.4 230 Intron XP_005250561.1
XM_006716054.2 230 Missense Mutation AGA,GGA R30G XP_006716117.1
XM_006716055.2 230 Missense Mutation AGA,GGA R30G XP_006716118.1
XM_011516414.1 230 Missense Mutation AGA,GGA R30G XP_011514716.1

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