Product Details
- SNP ID
-
rs2073158
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:41684776 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGGAATGGGGAGCCATGCCCCGG[C/T]GCCAGGGGTTCGGGGTAGCCCGGGG
- Phenotype
-
MIM: 600744
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TFEB
PubMed Links
Gene Details
- Gene
- TFEB
- Gene Name
- transcription factor EB
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001167827.2 |
1199 |
Silent Mutation |
GCA,GCG |
A432A |
NP_001161299.2 |
| NM_001271943.1 |
1199 |
Silent Mutation |
GCA,GCG |
A333A |
NP_001258872.1 |
| NM_001271944.1 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
NP_001258873.1 |
| NM_001271945.1 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
NP_001258874.1 |
| NM_007162.2 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
NP_009093.1 |
| XM_005249411.1 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_005249468.1 |
| XM_005249412.1 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_005249469.1 |
| XM_006715212.3 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_006715275.1 |
| XM_006715213.2 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_006715276.1 |
| XM_011514915.1 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_011513217.1 |
| XM_011514916.2 |
1199 |
Silent Mutation |
GCA,GCG |
A418A |
XP_011513218.1 |
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