Product Details

SNP ID
rs143719876
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:6687657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGATGTACAGCGGATTGAGGCCGA[C/T]GGAGCGAGACTGCGGAAAAACAGCA
Phenotype
MIM: 608305
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC13A5 PubMed Links

Gene Details

Gene
SLC13A5
Gene Name
solute carrier family 13 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143838.2 1406 Intron NP_001137310.1
NM_001284509.1 1406 Missense Mutation ATC,GTC I466V NP_001271438.1
NM_001284510.1 1406 Missense Mutation ATC,GTC I440V NP_001271439.1
NM_177550.4 1406 Missense Mutation ATC,GTC I483V NP_808218.1
XM_011523795.2 1406 UTR 3 XP_011522097.1

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