Product Details

SNP ID
rs199709287
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:179882927 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCAGAGCAGCCTCCGCTACAGC[C/T]GTCTCCTGTTATGACCAGGAGAGGG
Phenotype
MIM: 614512 MIM: 614513
Polymorphism
C/T, 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_001267578.1 886 Missense Mutation CCG,CTG P142L NP_001254507.1
NM_015602.3 886 Missense Mutation CCG,CTG P142L NP_056417.2
XM_011509403.1 886 Missense Mutation CCG,CTG P142L XP_011507705.1
XM_011509404.1 886 Missense Mutation CCG,CTG P142L XP_011507706.1
Gene
TOR1AIP2
Gene Name
torsin 1A interacting protein 2
There are no transcripts associated with this gene.

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