Product Details

SNP ID

rs141921728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129804330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCCTCATGAGCAGAAGATAAAA[C/T]TGTACCAGGCAAGAGAACCCGCTAT

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

There are no transcripts associated with this gene.

Gene

TOR1B

Gene Name

torsin family 1 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317893.1	522	Silent Mutation	CTG,TTG	L153L	NP_001304822.1
NM_001317894.1	522	Silent Mutation	CTG,TTG	L153L	NP_001304823.1
NM_014506.2	522	Silent Mutation	CTG,TTG	L153L	NP_055321.1
XM_005251927.3	522	Silent Mutation	CTG,TTG	L153L	XP_005251984.1

View Full Product Details