Product Details

SNP ID
rs199952953
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:122977743 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCACGAAGGGACCGGCGGGCAGG[A/C]TCAGCCGAGCCTCGGCGGCGGTGGC
Phenotype
MIM: 611074
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BSX PubMed Links

Gene Details

Gene
BSX
Gene Name
brain specific homeobox
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098169.1 608 Missense Mutation AGC,ATC S203I NP_001091639.1

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