Product Details
- SNP ID
-
rs190591845
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:4941142 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGCTCTGTTTGGGGCTACCTTGAG[C/T]CAGGAGGGCCTCCAGGTGATTTTCT
- Phenotype
-
MIM: 131370
MIM: 606672
MIM: 176610
MIM: 610431
MIM: 604165
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ENO3
PubMed Links
Gene Details
- Gene
- ENO3
- Gene Name
- enolase 3
There are no transcripts associated with this gene.
- Gene
- GP1BA
- Gene Name
- glycoprotein Ib platelet alpha subunit
There are no transcripts associated with this gene.
- Gene
- PFN1
- Gene Name
- profilin 1
There are no transcripts associated with this gene.
- Gene
- RNF167
- Gene Name
- ring finger protein 167
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320356.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307285.1 |
| NM_001320357.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307286.1 |
| NM_001320358.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307287.1 |
| NM_001320359.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307288.1 |
| NM_001320360.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307289.1 |
| NM_001320361.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_001307290.1 |
| NM_001320362.1 |
410 |
Silent Mutation |
AGC,AGT |
S15S |
NP_001307291.1 |
| NM_001320363.1 |
410 |
Silent Mutation |
AGC,AGT |
S15S |
NP_001307292.1 |
| NM_001320364.1 |
410 |
Silent Mutation |
AGC,AGT |
S15S |
NP_001307293.1 |
| NM_001320365.1 |
410 |
Silent Mutation |
AGC,AGT |
S15S |
NP_001307294.1 |
| NM_015528.2 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
NP_056343.1 |
| XM_017024427.1 |
410 |
Silent Mutation |
AGC,AGT |
S50S |
XP_016879916.1 |
| XM_017024428.1 |
410 |
Intron |
|
|
XP_016879917.1 |
- Gene
- SLC25A11
- Gene Name
- solute carrier family 25 member 11
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