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SNP ID:
rs6971
Gene
TSPO TTLL12
Gene Name
translocator protein
tubulin tyrosine ligase like 12
Set Membership:
> HapMap
Chromosome Location:
Chr.22: 43162920 - 43162920 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

CCCCTACCTGGCCTGGCTGGCCTTC[A/G]CGACCACACTCAACTACTGCGTATG

Assay ID C___2512465_20
Size
Availability Made To Order
Catalog # 4351379
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details



Species:

Human

dbSNP Submissions:

NA

Phenotype:

MIM: 109610

Literature Links:

TSPO PubMed Links

Allele Nomenclature:

Minor Allele Frequency:

1000Genome Applied Biosystems® HapMap
Global
T (0.17)
(0.83)
Caucasian - Not Available CEPH (CEU)
T (0.29)
(0.71)
EAS
T (0.05)
(0.95)
African American - Not Available YRI (Yoruba)
T (0.11)
(0.89)
SAS
T (0.14)
(0.86)
Chinese - Not Available JPT (Japanese)
T (0.04)
(0.96)
AFR
T (0.17)
(0.83)
Japanese - Not Available CHB (Han Chinese)
T (0.01)
(0.99)
EUR
T (0.34)
(0.66)
AMR
T (0.15)
(0.85)
TSPO - translocator protein
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000714.5 559 Missense Mutation ACG,GCG T,A 147 NP_000705.2
NM_001256530.1 559 Missense Mutation ACG,GCG T,A 147 NP_001243459.1
NM_001256531.1 559 Missense Mutation ACG,GCG T,A 147 NP_001243460.1
TTLL12 - tubulin tyrosine ligase like 12
There are no transcripts associated with this gene.

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More Information


Set Membership:

HapMap

Gene Ontology Categories:

Function(s) Process(es)

protein targeting to mitochondrion
steroid biosynthetic process
heme biosynthetic process
anion transport
chloride transport
lipid transport
apoptotic process
signal transduction
chemical synaptic transmission
aging
steroid metabolic process
cell proliferation
glial cell migration
response to manganese ion
response to vitamin B1
positive regulation of necrotic cell death
peripheral nervous system axon regeneration
adrenal gland development
negative regulation of protein ubiquitination
regulation of cholesterol transport
response to progesterone
negative regulation of tumor necrosis factor production
response to testosterone
response to drug
positive regulation of apoptotic process
negative regulation of nitric oxide biosynthetic process
behavioral response to pain
regulation of steroid biosynthetic process
positive regulation of mitochondrial depolarization
positive regulation of calcium ion transport
contact inhibition
positive regulation of glial cell proliferation
negative regulation of glial cell proliferation
cellular response to lipopolysaccharide
cellular response to zinc ion
cellular hypotonic response
maintenance of protein location in mitochondrion
negative regulation of mitophagy
negative regulation of ATP metabolic process
positive regulation of reactive oxygen species metabolic process
androgen binding
protein binding
benzodiazepine receptor activity
cholesterol binding
ion channel binding

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