Product Details

SNP ID
rs202064998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73700734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCAGGGCTGGGCTACTGACCCGG[C/T]GCGCCTTGCTCTGGTACTTGACGGC
Phenotype
MIM: 186590 MIM: 615733
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
STX1A PubMed Links

Gene Details

Gene
STX1A
Gene Name
syntaxin 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165903.1 841 Missense Mutation ACC,GCC T247A NP_001159375.1
NM_004603.3 841 Missense Mutation CAC,CGC H262R NP_004594.1
XM_017012567.1 841 Intron XP_016868056.1
Gene
WBSCR22
Gene Name
Williams-Beuren syndrome chromosome region 22
There are no transcripts associated with this gene.

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