Product Details

SNP ID
rs11542186
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:69187695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCGACCTGCGCCAGGCCACCCAC[G/T]ACCAGGCCGTGCAGGCGCTGAAGCG
Phenotype
MIM: 600027
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SNTB2 PubMed Links

Gene Details

Gene
SNTB2
Gene Name
syntrophin beta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006750.3 549 Missense Mutation GAC,TAC D177Y NP_006741.1

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