Product Details

SNP ID

rs138321348

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:108753123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATCGTGTTGCAAAATGACAGAT[C/G]TTCTAGAAGAAGGTATTACTGGTAA

Phenotype

MIM: 608339

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

STXBP3 PubMed Links

Gene Details

Gene

STXBP3

Gene Name

syntaxin binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007269.2	235	Missense Mutation	CTT,GTT	L54V	NP_009200.2

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