Product Details

SNP ID
rs147746446
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:116526605 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAGGCCATGGCAGACGAGCTGAG[C/G]GAGAAGCAAGTGTACGACGCGCACA
Phenotype
MIM: 601047
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CAV1 PubMed Links

Gene Details

Gene
CAV1
Gene Name
caveolin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172895.1 389 Missense Mutation AGC,AGG S6R NP_001166366.1
NM_001172896.1 389 Missense Mutation AGC,AGG S6R NP_001166367.1
NM_001172897.1 389 Missense Mutation AGC,AGG S6R NP_001166368.1
NM_001753.4 389 Missense Mutation AGC,AGG S37R NP_001744.2

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