Product Details

SNP ID
rs16936946
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129807253 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTGCGAACTCTGTTTTCATATTTGA[C/T]GAGATGGATAAATTGCACCCCGGGA
Phenotype
MIM: 605204 MIM: 608050
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TOR1A PubMed Links

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_001317893.1 596 Silent Mutation GAC,GAT D177D NP_001304822.1
NM_001317894.1 596 Intron NP_001304823.1
NM_014506.2 596 Silent Mutation GAC,GAT D177D NP_055321.1
XM_005251927.3 596 Silent Mutation GAC,GAT D177D XP_005251984.1

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