Product Details

SNP ID
rs1045440
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129813581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACACACACAAGGCCAACAACTT[A/G]GAATCTGAGCAGTCTCTCATAATGT
Phenotype
MIM: 605204 MIM: 608050
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TOR1A PubMed Links

Gene Details

Gene
TOR1A
Gene Name
torsin family 1 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000113.2 1467 UTR 3 NP_000104.1
Gene
TOR1B
Gene Name
torsin family 1 member B
There are no transcripts associated with this gene.

View Full Product Details