Product Details

SNP ID

rs121434501

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:116526606 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGGCCATGGCAGACGAGCTGAGC[G/T]AGAAGCAAGTGTACGACGCGCACAC

Phenotype

MIM: 601047

Polymorphism

G/T, 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	390	Nonsense Mutation	GAG,TAG	E7*	NP_001166366.1
NM_001172896.1	390	Nonsense Mutation	GAG,TAG	E7*	NP_001166367.1
NM_001172897.1	390	Nonsense Mutation	GAG,TAG	E7*	NP_001166368.1
NM_001753.4	390	Nonsense Mutation	GAG,TAG	E38*	NP_001744.2

View Full Product Details