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- SNP ID:
- rs117884450
- Gene
-
DISC1DISC2TSNAX-DISC1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 231818345 - 231818345 on Build GRCh38
- Polymorphism:
- A/G, Transition Substitution
- Context Sequence [VIC/FAM]:
GTGCTGTAGGAAACCATTTCTGGAC[A/G]GCTAAAGACCTCACCGAGGAGATTA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
|
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Phenotype: |
MIM: 605210
MIM: 606271
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Literature Links: |
DISC1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| DISC1 - disrupted in schizophrenia 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001012957.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001012975.1 | |
| NM_001012958.1 | 654 | Intron | NP_001012976.1 | |||
| NM_001012959.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001012977.1 | |
| NM_001164537.1 | 654 | Silent Mutation | ACA,ACG | T,T 635 | NP_001158009.1 | |
| NM_001164538.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001158010.1 | |
| NM_001164539.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001158011.1 | |
| NM_001164540.1 | 654 | Silent Mutation | ACA,ACG | T,T 481 | NP_001158012.1 | |
| NM_001164541.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001158013.1 | |
| NM_001164542.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001158014.1 | |
| NM_001164544.1 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_001158016.1 | |
| NM_001164545.1 | 654 | Missense Mutation | CAG,CGG | Q,R 569 | NP_001158017.1 | |
| NM_001164546.1 | 654 | Intron | NP_001158018.1 | |||
| NM_001164547.1 | 654 | Intron | NP_001158019.1 | |||
| NM_001164548.1 | 654 | Missense Mutation | AGC,GGC | S,G 551 | NP_001158020.1 | |
| NM_001164549.1 | 654 | Intron | NP_001158021.1 | |||
| NM_001164550.1 | 654 | Intron | NP_001158022.1 | |||
| NM_001164551.1 | 654 | Intron | NP_001158023.1 | |||
| NM_001164552.1 | 654 | Intron | NP_001158024.1 | |||
| NM_001164553.1 | 654 | Intron | NP_001158025.1 | |||
| NM_001164554.1 | 654 | Intron | NP_001158026.1 | |||
| NM_001164555.1 | 654 | Intron | NP_001158027.1 | |||
| NM_001164556.1 | 654 | Missense Mutation | AGC,GGC | S,G 201 | NP_001158028.1 | |
| NM_018662.2 | 654 | Silent Mutation | ACA,ACG | T,T 603 | NP_061132.2 | |
| DISC2 - disrupted in schizophrenia 2 (non-protein coding) | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| TSNAX-DISC1 - TSNAX-DISC1 readthrough (NMD candidate) | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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Additional Information:
For this assay, SNP(s) [rs12133766] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Ontology Categories:
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