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- SNP ID:
- rs150178524
- Gene
-
TSC2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.16: 2074326 - 2074326 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CATCAAGGCGCTGCCTGTTCTGGTG[A/G]TGAAGCTCACGCACATCTCAGCCAC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 191092
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Literature Links: |
TSC2 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
|
| TSC2 - tuberous sclerosis 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000548.4 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | NP_000539.2 | |
| NM_001077183.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | NP_001070651.1 | |
| NM_001114382.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | NP_001107854.1 | |
| NM_001318827.1 | 2583 | Missense Mutation | ATG,GTG | M,V 791 | NP_001305756.1 | |
| NM_001318829.1 | 2583 | Missense Mutation | ATG,GTG | M,V 779 | NP_001305758.1 | |
| NM_001318831.1 | 2583 | Missense Mutation | ATG,GTG | M,V 628 | NP_001305760.1 | |
| NM_001318832.1 | 2583 | Missense Mutation | ATG,GTG | M,V 839 | NP_001305761.1 | |
| XM_005255529.4 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_005255586.2 | |
| XM_005255531.4 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_005255588.2 | |
| XM_011522636.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_011520938.1 | |
| XM_011522637.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_011520939.1 | |
| XM_011522638.2 | 2583 | Missense Mutation | ATG,GTG | M,V 882 | XP_011520940.2 | |
| XM_011522639.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_011520941.1 | |
| XM_011522640.2 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_011520942.1 | |
| XM_017023615.1 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_016879104.1 | |
| XM_017023616.1 | 2583 | Missense Mutation | ATG,GTG | M,V 828 | XP_016879105.1 | |
| XM_017023617.1 | 2583 | Missense Mutation | ATG,GTG | M,V 882 | XP_016879106.1 | |
| XM_017023618.1 | 2583 | Missense Mutation | ATG,GTG | M,V 380 | XP_016879107.1 | |
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