Product Details

SNP ID
rs139163077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:166365442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTTCCATTGTTATGCAGATGCC[A/G]TTTTAGTCATCCTGGAAAGAAACAA
Phenotype
MIM: 614738
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MPC1 PubMed Links

Gene Details

Gene
MPC1
Gene Name
mitochondrial pyruvate carrier 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270879.1 1237 Missense Mutation ACG,ATG T63M NP_001257808.1
NM_016098.3 1237 Missense Mutation ACG,ATG T106M NP_057182.1
XM_011535894.1 1237 Missense Mutation ACG,ATG T63M XP_011534196.1
XM_011535895.1 1237 Missense Mutation ACG,ATG T63M XP_011534197.1

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