Product Details

SNP ID
rs200024298
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:179882756 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGGTCCCCGGTGGGAAAACGAA[C/G]CCGGCTAGAAGAGTTCCGGTCCGAT
Phenotype
MIM: 614512 MIM: 614513
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TOR1AIP1 PubMed Links

Gene Details

Gene
TOR1AIP1
Gene Name
torsin 1A interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267578.1 715 Missense Mutation ACC,AGC T85S NP_001254507.1
NM_015602.3 715 Missense Mutation ACC,AGC T85S NP_056417.2
XM_011509403.1 715 Missense Mutation ACC,AGC T85S XP_011507705.1
XM_011509404.1 715 Missense Mutation ACC,AGC T85S XP_011507706.1
Gene
TOR1AIP2
Gene Name
torsin 1A interacting protein 2
There are no transcripts associated with this gene.

View Full Product Details