Product Details

SNP ID

rs147805267

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129813980 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCCAATCATGACTGTCAATCAT[C/T]GTAGTAATAATCTAACTTGGTGAAC

Phenotype

MIM: 605204 MIM: 608050

Polymorphism

C/T, Transition 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	1068	Missense Mutation	AAT,GAT	N331D	NP_000104.1

Gene

TOR1B

Gene Name

torsin family 1 member B

There are no transcripts associated with this gene.

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