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SNP ID

rs200098735

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:179882618 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTCGCCCCTCAAAATGGCGGCA[A/G]CAGCGATGCGCCTGCGTACAGAACT

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	577	Missense Mutation	AAC,AGC	N39S	NP_001254507.1
NM_015602.3	577	Missense Mutation	AAC,AGC	N39S	NP_056417.2
XM_011509403.1	577	Missense Mutation	AAC,AGC	N39S	XP_011507705.1
XM_011509404.1	577	Missense Mutation	AAC,AGC	N39S	XP_011507706.1

Gene

TOR1AIP2

Gene Name

torsin 1A interacting protein 2

There are no transcripts associated with this gene.

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