Product Details

SNP ID

rs202000075

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73865153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGCCCCCTGGGCCAGGCTCTCT[A/G]GGCTGGGCTGGCTCTGATACAGGTC

Phenotype

MIM: 612547

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

WBSCR28 PubMed Links

Additional Information

For this assay, SNP(s) [rs13227841] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	269	Nonsense Mutation	TAG,TGG	*78W	NP_872310.2
XM_011515785.2	269	UTR 5			XP_011514087.1
XM_017011741.1	269	UTR 5			XP_016867230.1

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