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- SNP ID:
- rs202040509
- Gene
-
TBATA - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.10: 70772523 - 70772523 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CTACTTGGAATCTTACCTGGTTTTT[C/T]GCTTTTTGTAAAAGGTGATATCTTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612640
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Literature Links: |
TBATA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
| TBATA - thymus, brain and testes associated | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001318241.1 | 1496 | Missense Mutation | AAA,GAA | K,E 322 | NP_001305170.1 | |
| NM_001318242.1 | 1496 | Missense Mutation | AAA,GAA | K,E 321 | NP_001305171.1 | |
| NM_001318243.1 | 1496 | Missense Mutation | AAA,GAA | K,E 320 | NP_001305172.1 | |
| NM_152710.3 | 1496 | Missense Mutation | AAA,GAA | K,E 321 | NP_689923.3 | |
| XM_017015845.1 | 1496 | Silent Mutation | GCA,GCG | A,A 384 | XP_016871334.1 | |
| XM_017015846.1 | 1496 | Silent Mutation | GCA,GCG | A,A 384 | XP_016871335.1 | |
| XM_017015847.1 | 1496 | Silent Mutation | GCA,GCG | A,A 384 | XP_016871336.1 | |
| XM_017015848.1 | 1496 | Missense Mutation | CAA,CGA | Q,R 369 | XP_016871337.1 | |
| XM_017015849.1 | 1496 | Silent Mutation | GCA,GCG | A,A 384 | XP_016871338.1 | |
| XM_017015850.1 | 1496 | Intron | XP_016871339.1 | |||
| XM_017015851.1 | 1496 | Intron | XP_016871340.1 | |||
| XM_017015852.1 | 1496 | Intron | XP_016871341.1 | |||
| XM_017015853.1 | 1496 | Missense Mutation | AAA,GAA | K,E 353 | XP_016871342.1 | |
| XM_017015854.1 | 1496 | Missense Mutation | CAA,CGA | Q,R 369 | XP_016871343.1 | |
| XM_017015855.1 | 1496 | Missense Mutation | CAA,CGA | Q,R 369 | XP_016871344.1 | |
| XM_017015856.1 | 1496 | Missense Mutation | AAA,GAA | K,E 353 | XP_016871345.1 | |
| XM_017015857.1 | 1496 | Missense Mutation | AAA,GAA | K,E 353 | XP_016871346.1 | |
| XM_017015858.1 | 1496 | Intron | XP_016871347.1 | |||
| XM_017015859.1 | 1496 | Intron | XP_016871348.1 | |||
| XM_017015860.1 | 1496 | Missense Mutation | CAA,CGA | Q,R 277 | XP_016871349.1 | |
| XM_017015861.1 | 1496 | Intron | XP_016871350.1 | |||
| XM_017015862.1 | 1496 | Intron | XP_016871351.1 | |||
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