Product Details

SNP ID
rs200130063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:75214068 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGAAAACAAAGTCTTGCAGTGGC[A/G]TGGTGAGTGTTACTGTTGAATAAGT
Phenotype
MIM: 193245
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VDAC2 PubMed Links

Gene Details

Gene
VDAC2
Gene Name
voltage dependent anion channel 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184783.2 629 Missense Mutation ATG,GTG M65V NP_001171712.1
NM_001184823.1 629 Intron NP_001171752.1
NM_001324087.1 629 UTR 5 NP_001311016.1
NM_001324088.1 629 Missense Mutation ATG,GTG M50V NP_001311017.1
NM_001324089.1 629 UTR 5 NP_001311018.1
NM_001324090.1 629 UTR 5 NP_001311019.1
NM_003375.4 629 Missense Mutation ATG,GTG M50V NP_003366.2

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