Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCCCTCATGAGCAGAAGATAAAA[C/T]TGTACCAGGCAAGAGAACCCGCTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605204 MIM: 608050 | ||||||||||||||||||||
Literature Links: |
TOR1A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TOR1A - torsin family 1 member A | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TOR1B - torsin family 1 member B | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317893.1 | 522 | Silent Mutation | CTG,TTG | L,L 153 | NP_001304822.1 | |
NM_001317894.1 | 522 | Silent Mutation | CTG,TTG | L,L 153 | NP_001304823.1 | |
NM_014506.2 | 522 | Silent Mutation | CTG,TTG | L,L 153 | NP_055321.1 | |
XM_005251927.3 | 522 | Silent Mutation | CTG,TTG | L,L 153 | XP_005251984.1 |