Product Details

SNP ID

rs12699004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:71142163 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGATTATAGGAATGAGCCACTATG[C/T]GGGGCCCTCAGGAGATATTTCTTGA

Phenotype

MIM: 615137

Polymorphism

C/T, 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

View Full Product Details