Product Details

SNP ID

rs145795080

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:130791904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCTCTTGGGATATGGTTGCTAG[A/G]ACAATGTTGTTGCTAGGATAATTCC

Phenotype

MIM: 132350

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

STX2 PubMed Links

Additional Information

For this assay, SNP(s) [rs4759786] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

STX2

Gene Name

syntaxin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001980.3	1158	Missense Mutation	TCC,TTC	S287F	NP_001971.2
NM_194356.2	1158	UTR 3			NP_919337.1
XM_005253557.1	1158	Missense Mutation	CCT,TCT	P267S	XP_005253614.1
XM_017018978.1	1158	UTR 3			XP_016874467.1
XM_017018979.1	1158	UTR 3			XP_016874468.1
XM_017018980.1	1158	Missense Mutation	TCC,TTC	S319F	XP_016874469.1
XM_017018981.1	1158	Intron			XP_016874470.1
XM_017018982.1	1158	Missense Mutation	CCT,TCT	P299S	XP_016874471.1
XM_017018983.1	1158	UTR 3			XP_016874472.1
XM_017018984.1	1158	UTR 3			XP_016874473.1
XM_017018985.1	1158	Missense Mutation	TCC,TTC	S213F	XP_016874474.1
XM_017018986.1	1158	Intron			XP_016874475.1
XM_017018987.1	1158	Intron			XP_016874476.1
XM_017018988.1	1158	Intron			XP_016874477.1
XM_017018989.1	1158	Intron			XP_016874478.1

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