Product Details

SNP ID
rs149980854
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:123115600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACATGGGTACAATCCAAGTACAT[A/G]TGCCAAGCATAACCACAGCAACACC
Phenotype
MIM: 606193
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC13A1 PubMed Links

Gene Details

Gene
SLC13A1
Gene Name
solute carrier family 13 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324400.1 2232 Missense Mutation ACA,ATA T445I NP_001311329.1
NM_022444.3 2232 Missense Mutation ACA,ATA T569I NP_071889.2
XM_011516515.2 2232 Missense Mutation ACA,ATA T625I XP_011514817.1
XM_011516516.2 2232 Missense Mutation ACA,ATA T591I XP_011514818.1
XM_011516517.2 2232 Missense Mutation ACA,ATA T561I XP_011514819.1
XM_011516518.2 2232 Intron XP_011514820.1
XM_011516519.2 2232 Intron XP_011514821.1
XM_017012554.1 2232 Missense Mutation ACA,ATA T582I XP_016868043.1
XM_017012555.1 2232 Intron XP_016868044.1

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