Product Details

SNP ID

rs145875322

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129807210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGACCAGTTACAGAAGTGGATCC[A/G]CGGTAATGTGAGTGCATGTGCGAAC

Phenotype

MIM: 605204 MIM: 608050

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

TOR1A PubMed Links

Additional Information

For this assay, SNP(s) [rs2302820] are located under a primer 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

TOR1A

Gene Name

torsin family 1 member A

There are no transcripts associated with this gene.

Gene

TOR1B

Gene Name

torsin family 1 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317893.1	553	Missense Mutation	CAC,CGC	H163R	NP_001304822.1
NM_001317894.1	553	Intron			NP_001304823.1
NM_014506.2	553	Missense Mutation	CAC,CGC	H163R	NP_055321.1
XM_005251927.3	553	Missense Mutation	CAC,CGC	H163R	XP_005251984.1

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