Product Details

SNP ID

rs199703984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73865625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGAAGCTCCTGGTACAGCTGAGA[C/T]GTCTGTATTGGTGGGTGGAGACTAT

Phenotype

MIM: 612547

Polymorphism

C/T, 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	586	Missense Mutation	CGT,TGT	R184C	NP_872310.2
XM_011515785.2	586	Missense Mutation	CGT,TGT	R87C	XP_011514087.1
XM_017011741.1	586	Missense Mutation	CGT,TGT	R87C	XP_016867230.1

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