Product Details

SNP ID
rs201972728
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:179882879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAACCGAGGAAATGAAGACGCGAA[A/G]GACTACCCGCCTTCAGCAGCAGCAC
Phenotype
MIM: 614512 MIM: 614513
Polymorphism
A/G, Transition 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_001267578.1 838 Missense Mutation AAG,AGG K126R NP_001254507.1
NM_015602.3 838 Missense Mutation AAG,AGG K126R NP_056417.2
XM_011509403.1 838 Missense Mutation AAG,AGG K126R XP_011507705.1
XM_011509404.1 838 Missense Mutation AAG,AGG K126R XP_011507706.1
Gene
TOR1AIP2
Gene Name
torsin 1A interacting protein 2
There are no transcripts associated with this gene.

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