Product Details

SNP ID
rs140874969
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:101158260 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGCCAACTCACTTTCTTAAAAA[C/T]ATCAAAATTGGATAAAAAGTCCTCT
Phenotype
MIM: 608044
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC5A8 PubMed Links

Gene Details

Gene
SLC5A8
Gene Name
solute carrier family 5 member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145913.3 2089 Missense Mutation ATT,GTT I567V NP_666018.3
XM_017018910.1 2089 Intron XP_016874399.1

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