Product Details

SNP ID

rs146306889

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73700799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACGGCCCTCTCCACATAGTCTAC[C/T]GCGTGTTCCACATTGTACTCGATCC

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	776	Intron			NP_001159375.1
NM_004603.3	776	Silent Mutation	GCA,GCG	A240A	NP_004594.1
XM_017012567.1	776	Intron			XP_016868056.1

Gene

WBSCR22

Gene Name

Williams-Beuren syndrome chromosome region 22

There are no transcripts associated with this gene.

View Full Product Details