Product Details

SNP ID
rs201185444
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:116500344 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTGCAGCCATGCCCTCTTTGAA[A/G]TCAGCAAATACGTAATGTACAAGTT
Phenotype
MIM: 601048
Polymorphism
A/G, Transition 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_001206747.1 416 Missense Mutation ATC,GTC I66V NP_001193676.1
NM_001206748.1 416 UTR 5 NP_001193677.1
NM_001233.4 416 Missense Mutation ATC,GTC I79V NP_001224.1
NM_198212.2 416 Intron NP_937855.1

View Full Product Details