Product Details

SNP ID
rs143606406
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:116500376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATACGTAATGTACAAGTTCCTGAC[C/G]GTGTTCCTGGCCATTCCCCTGGCCT
Phenotype
MIM: 601048
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAV2 PubMed Links

Gene Details

Gene
CAV2
Gene Name
caveolin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206747.1 448 Silent Mutation ACC,ACG T76T NP_001193676.1
NM_001206748.1 448 Silent Mutation ACC,ACG T6T NP_001193677.1
NM_001233.4 448 Silent Mutation ACC,ACG T89T NP_001224.1
NM_198212.2 448 Intron NP_937855.1

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