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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