Product Details

SNP ID
rs201999568
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:123115579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAGGGTAAGTGTAGAGGTCAAAC[A/T]TGGGTACAATCCAAGTACATATGCC
Phenotype
MIM: 606193
Polymorphism
A/T, Transversion 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 2253 Missense Mutation AAG,ATG K452M NP_001311329.1
NM_022444.3 2253 Missense Mutation AAG,ATG K576M NP_071889.2
XM_011516515.2 2253 Missense Mutation AAG,ATG K632M XP_011514817.1
XM_011516516.2 2253 Missense Mutation AAG,ATG K598M XP_011514818.1
XM_011516517.2 2253 Missense Mutation AAG,ATG K568M XP_011514819.1
XM_011516518.2 2253 Intron XP_011514820.1
XM_011516519.2 2253 Intron XP_011514821.1
XM_017012554.1 2253 Missense Mutation AAG,ATG K589M XP_016868043.1
XM_017012555.1 2253 Intron XP_016868044.1

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