Product Details

SNP ID
rs76891334
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:179844416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTAAAATCTTTCCATACTTTAA[G/T]CAGACTTCTTAGCTATATACATATG
Phenotype
MIM: 614513
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TOR1AIP2 PubMed Links

Gene Details

Gene
TOR1AIP2
Gene Name
torsin 1A interacting protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199260.1 3164 UTR 3 NP_001186189.1
NM_022347.3 3164 Intron NP_071742.1
NM_145034.4 3164 UTR 3 NP_659471.1
XM_005244939.4 3164 UTR 3 XP_005244996.1
XM_017000474.1 3164 UTR 3 XP_016855963.1
XM_017000475.1 3164 UTR 3 XP_016855964.1
XM_017000476.1 3164 UTR 3 XP_016855965.1
XM_017000477.1 3164 Intron XP_016855966.1
XM_017000478.1 3164 Intron XP_016855967.1

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