Product Details

SNP ID
rs138079521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27201359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCCACACCCTTACCAGTGAGTA[C/G]ACTGACAATCAGGCCCACCACAATC
Phenotype
MIM: 604024
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SLC5A6 PubMed Links

Gene Details

Gene
SLC5A6
Gene Name
solute carrier family 5 member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021095.2 1929 Silent Mutation CTA,GTA L547V NP_066918.2
XM_006712128.1 1929 Silent Mutation CTA,GTA L547V XP_006712191.1
XM_006712129.1 1929 Silent Mutation CTA,GTA L547V XP_006712192.1
XM_006712130.1 1929 Missense Mutation CTA,GTA L547V XP_006712193.1
XM_011533146.2 1929 Silent Mutation CTA,GTA L324V XP_011531448.1
XM_017005216.1 1929 Silent Mutation CTA,GTA L338V XP_016860705.1

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