Product Details

SNP ID
rs4719077
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:71139320 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTTAGAGACACCCTCTCCTCTC[C/T]TCAGAGTCCACACGCAGGACGCACA
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

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