Product Details

SNP ID

rs145787430

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73865075 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCACTGGGTGTCAGGGCTGGCCC[A/G]GGAGGCCCGGGGGTCCTGTAACTGG

Phenotype

MIM: 612547

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

WBSCR28 PubMed Links

Gene Details

Gene

WBSCR28

Gene Name

Williams-Beuren syndrome chromosome region 28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182504.3	191	Missense Mutation	CAG,CGG	Q52R	NP_872310.2
XM_011515785.2	191	UTR 5			XP_011514087.1
XM_017011741.1	191	UTR 5			XP_016867230.1

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