Product Details

SNP ID
rs200001052
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:96121343 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATTCGGGGCAGGCAGGTTGATCC[C/T]GGATTTAGGAACTGGCTCTGATCCC
Phenotype
MIM: 603859
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SLC25A13 PubMed Links

Gene Details

Gene
SLC25A13
Gene Name
solute carrier family 25 member 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160210.1 1953 Missense Mutation AGG,GGG R627G NP_001153682.1
NM_014251.2 1953 Missense Mutation AGG,GGG R626G NP_055066.1
XM_006715831.3 1953 Missense Mutation AGG,GGG R637G XP_006715894.1
XM_011515727.2 1953 Intron XP_011514029.1
XM_017011663.1 1953 Missense Mutation AGG,GGG R623G XP_016867152.1
XM_017011664.1 1953 Missense Mutation AGG,GGG R342G XP_016867153.1
XM_017011665.1 1953 Missense Mutation AGG,GGG R342G XP_016867154.1

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