Product Details

SNP ID
rs151254233
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:179846243 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTAAGTCTCTCACTTTTTCTTCC[A/G]TTTCCCTTGGGCCTACACTTGCTTC
Phenotype
MIM: 614513
Polymorphism
A/G, Transition 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 1337 Missense Mutation ACG,ATG T414M NP_001186189.1
NM_022347.3 1337 Intron NP_071742.1
NM_145034.4 1337 Missense Mutation ACG,ATG T414M NP_659471.1
XM_005244939.4 1337 Missense Mutation ACG,ATG T414M XP_005244996.1
XM_017000474.1 1337 Missense Mutation ACG,ATG T414M XP_016855963.1
XM_017000475.1 1337 Missense Mutation ACG,ATG T414M XP_016855964.1
XM_017000476.1 1337 Missense Mutation ACG,ATG T208M XP_016855965.1
XM_017000477.1 1337 Intron XP_016855966.1
XM_017000478.1 1337 Intron XP_016855967.1

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