Product Details

SNP ID
rs200227696
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:36564542 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGATCTCCGTGGACGGCAGGGTGT[G/T]GAAGCCCTTGATGCCCACGGGGGAG
Phenotype
MIM: 602911
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CACNG2 PubMed Links

Gene Details

Gene
CACNG2
Gene Name
calcium voltage-gated channel auxiliary subunit gamma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006078.3 647 Missense Mutation AAC,CAC N261H NP_006069.1
XM_017028531.1 647 Missense Mutation AAC,CAC N175H XP_016884020.1

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