Product Details
- SNP ID
-
rs138131380
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
4
- Location
-
Chr.1:151342628 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCCCCACTTCCACCTGACTTTTTT[C/T]GAGGGCGCCCCCGTTTCCTTTTGGC
- Phenotype
-
MIM: 601863
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GBAT2
PubMed Links
Gene Details
- Gene
- GBAT2
- Gene Name
- glioblastoma multiforme-associated transcript 2
There are no transcripts associated with this gene.
- Gene
- RFX5
- Gene Name
- regulatory factor X5
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000449.3 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
NP_000440.1 |
| NM_001025603.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
NP_001020774.1 |
| XM_005245405.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_005245462.1 |
| XM_005245406.3 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_005245463.1 |
| XM_011509847.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_011508149.1 |
| XM_011509848.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_011508150.1 |
| XM_011509849.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_011508151.1 |
| XM_011509850.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q470R |
XP_011508152.1 |
| XM_017001999.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q299R |
XP_016857488.1 |
| XM_017002000.1 |
1623 |
Missense Mutation |
CAA,CGA |
Q299R |
XP_016857489.1 |
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