Product Details

SNP ID

rs139690983

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:179882657 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTACAGAACTCCTCCGTCGCGCC[A/T]GGGCCGGCGGGAAGTGAGGTTCTCG

Phenotype

MIM: 614512 MIM: 614513

Polymorphism

A/T, 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	616	Missense Mutation	CAG,CTG	Q52L	NP_001254507.1
NM_015602.3	616	Missense Mutation	CAG,CTG	Q52L	NP_056417.2
XM_011509403.1	616	Missense Mutation	CAG,CTG	Q52L	XP_011507705.1
XM_011509404.1	616	Missense Mutation	CAG,CTG	Q52L	XP_011507706.1

Gene

TOR1AIP2

Gene Name

torsin 1A interacting protein 2

There are no transcripts associated with this gene.

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