Product Details

SNP ID
rs184652725
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:75212258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGTATTCCTCCATCATATGCTGA[A/C]CTTGGCAAAGCTGCCAGAGATATTT
Phenotype
MIM: 193245
Polymorphism
A/C, Transversion 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_001184783.2 541 Missense Mutation GAA,GAC E35D NP_001171712.1
NM_001184823.1 541 Intron NP_001171752.1
NM_001324087.1 541 UTR 5 NP_001311016.1
NM_001324088.1 541 Missense Mutation GAA,GAC E20D NP_001311017.1
NM_001324089.1 541 UTR 5 NP_001311018.1
NM_001324090.1 541 UTR 5 NP_001311019.1
NM_003375.4 541 Missense Mutation GAA,GAC E20D NP_003366.2

View Full Product Details