Product Details

SNP ID

rs200257358

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:116500358 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCTTTGAAATCAGCAAATACGT[A/G]ATGTACAAGTTCCTGACGGTGTTCC

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	430	Silent Mutation	GTA,GTG	V70V	NP_001193676.1
NM_001206748.1	430	UTR 5			NP_001193677.1
NM_001233.4	430	Silent Mutation	GTA,GTG	V83V	NP_001224.1
NM_198212.2	430	Intron			NP_937855.1

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