Product Details

SNP ID
rs201746184
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:116500260 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCCCTGCGTCCTGTCTCCTCAG[C/G]TGGGCTTCGAGGATGTGATCGCAGA
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_001206747.1 332 Missense Mutation CTG,GTG L38V NP_001193676.1
NM_001206748.1 332 UTR 5 NP_001193677.1
NM_001233.4 332 Missense Mutation CTG,GTG L51V NP_001224.1
NM_198212.2 332 Intron NP_937855.1

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