Search
LOADING 
- SNP ID:
- rs113536847
- Gene
-
TPK1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.7: 144453614 - 144453614 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CCACAGTCACAACACCAGACCCGTC[A/G]TAGGTATTGGAAGTACTGACCAATG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606370
|
||||||||||||||||||||||||||||||||||||||
Literature Links: |
TPK1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
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
|
|||||
AMR
|
| TPK1 - thiamin pyrophosphokinase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001042482.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 172 | NP_001035947.1 | |
| NM_022445.3 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | NP_071890.2 | |
| XM_005249970.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | XP_005250027.1 | |
| XM_011516031.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 247 | XP_011514333.1 | |
| XM_011516032.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 247 | XP_011514334.1 | |
| XM_011516033.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 247 | XP_011514335.1 | |
| XM_011516034.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 247 | XP_011514336.1 | |
| XM_011516035.2 | 995 | UTR 3 | XP_011514337.1 | |||
| XM_011516037.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 242 | XP_011514339.1 | |
| XM_011516039.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | XP_011514341.1 | |
| XM_011516040.2 | 995 | Intron | XP_011514342.1 | |||
| XM_011516041.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 216 | XP_011514343.1 | |
| XM_011516043.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 198 | XP_011514345.1 | |
| XM_011516044.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 167 | XP_011514346.1 | |
| XM_011516046.1 | 995 | Intron | XP_011514348.1 | |||
| XM_011516047.2 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_011514349.1 | |
| XM_011516048.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_011514350.1 | |
| XM_011516050.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_011514352.1 | |
| XM_017011969.1 | 995 | Intron | XP_016867458.1 | |||
| XM_017011970.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 242 | XP_016867459.1 | |
| XM_017011971.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 242 | XP_016867460.1 | |
| XM_017011972.1 | 995 | Intron | XP_016867461.1 | |||
| XM_017011973.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | XP_016867462.1 | |
| XM_017011974.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | XP_016867463.1 | |
| XM_017011975.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 221 | XP_016867464.1 | |
| XM_017011976.1 | 995 | UTR 3 | XP_016867465.1 | |||
| XM_017011977.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 216 | XP_016867466.1 | |
| XM_017011978.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 216 | XP_016867467.1 | |
| XM_017011979.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 172 | XP_016867468.1 | |
| XM_017011980.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 141 | XP_016867469.1 | |
| XM_017011981.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 141 | XP_016867470.1 | |
| XM_017011982.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_016867471.1 | |
| XM_017011983.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_016867472.1 | |
| XM_017011984.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_016867473.1 | |
| XM_017011985.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_016867474.1 | |
| XM_017011986.1 | 995 | Silent Mutation | TAC,TAT | Y,Y 115 | XP_016867475.1 | |
Back To Top