Product Details

SNP ID

rs142711954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:71142552 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAGGCGTAGACTAGATGCTAAGA[A/G]TACAATGAGGTGCAGAGATCATGCT

Phenotype

MIM: 615137

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

WBSCR17 PubMed Links

Gene Details

Gene

WBSCR17

Gene Name

Williams-Beuren syndrome chromosome region 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022479.2		Intron			NP_071924.1
XM_011516467.2		Intron			XP_011514769.1
XM_011516469.2		Intron			XP_011514771.1
XM_017012521.1		Intron			XP_016868010.1

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