Product Details

SNP ID
rs141267402
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129807231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCGCGGTAATGTGAGTGCATGTG[C/T]GAACTCTGTTTTCATATTTGACGAG
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_001317893.1 574 Missense Mutation GCG,GTG A170V NP_001304822.1
NM_001317894.1 574 Intron NP_001304823.1
NM_014506.2 574 Missense Mutation GCG,GTG A170V NP_055321.1
XM_005251927.3 574 Missense Mutation GCG,GTG A170V XP_005251984.1

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