Product Details

SNP ID
rs201790924
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:116500355 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCCCTCTTTGAAATCAGCAAATA[C/T]GTAATGTACAAGTTCCTGACGGTGT
Phenotype
MIM: 601048
Polymorphism
C/T, 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_001206747.1 427 Silent Mutation TAC,TAT Y69Y NP_001193676.1
NM_001206748.1 427 UTR 5 NP_001193677.1
NM_001233.4 427 Silent Mutation TAC,TAT Y82Y NP_001224.1
NM_198212.2 427 Intron NP_937855.1

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