Product Details

SNP ID
rs121912668
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:32043363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGAGCTCATTCGCAATGCAGCC[A/G]ATATCTCCATCATCGTTATCTACTT
Phenotype
MIM: 182380
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC5A1 PubMed Links

Gene Details

Gene
SLC5A1
Gene Name
solute carrier family 5 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000343.3 332 Missense Mutation AAT,GAT N28D NP_000334.1
NM_001256314.1 332 Intron NP_001243243.1
XM_011530331.1 332 Missense Mutation AAT,GAT N28D XP_011528633.1

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