Product Details
- SNP ID
-
rs191636284
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:1214393 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGGGCCGCGCCGCGGATCCGGCC[C/T]TCCTTCAGGGCCTGGGCCAGCGCCT
- Phenotype
-
MIM: 602618
MIM: 605918
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CTBP1
PubMed Links
Gene Details
- Gene
- CTBP1
- Gene Name
- C-terminal binding protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001012614.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
NP_001012632.1 |
| NM_001328.2 |
6951 |
Silent Mutation |
GAA,GAG |
E281E |
NP_001319.1 |
| XM_005272261.3 |
6951 |
Silent Mutation |
GAA,GAG |
E281E |
XP_005272318.1 |
| XM_005272263.4 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_005272320.1 |
| XM_011513395.2 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_011511697.1 |
| XM_011513396.2 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_011511698.1 |
| XM_011513397.2 |
6951 |
Silent Mutation |
GAA,GAG |
E207E |
XP_011511699.1 |
| XM_017007762.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863251.1 |
| XM_017007763.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863252.1 |
| XM_017007764.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863253.1 |
| XM_017007765.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863254.1 |
| XM_017007766.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863255.1 |
| XM_017007767.1 |
6951 |
Silent Mutation |
GAA,GAG |
E270E |
XP_016863256.1 |
- Gene
- CTBP1-AS
- Gene Name
- CTBP1 antisense RNA
There are no transcripts associated with this gene.
- Gene
- LOC100130872
- Gene Name
- uncharacterized LOC100130872
There are no transcripts associated with this gene.
- Gene
- SPON2
- Gene Name
- spondin 2
There are no transcripts associated with this gene.
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