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SNP ID

rs144572721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129813042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGGGCAGCTAAGCTTTATAGG[A/T]GGTTTCGGGGATTCTGATTGAACGT

Phenotype

MIM: 605204 MIM: 608050

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

TOR1A PubMed Links

Gene Details

Gene

TOR1A

Gene Name

torsin family 1 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000113.2	2006	UTR 3			NP_000104.1

Gene

TOR1B

Gene Name

torsin family 1 member B

There are no transcripts associated with this gene.

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