Product Details
- SNP ID
-
rs146625055
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
9
- Location
-
Chr.1:154584964 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCATAGGAGAGTCTCAGTAGATCCC[G/T]GCGGTAACGGAAGGAGCAGAGCTTC
- Phenotype
-
MIM: 146920
MIM: 118507
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ADAR
PubMed Links
Gene Details
- Gene
- ADAR
- Gene Name
- adenosine deaminase, RNA specific
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001025107.2 |
3571 |
Silent Mutation |
AGG,CGG |
R880R |
NP_001020278.1 |
| NM_001111.4 |
3571 |
Silent Mutation |
AGG,CGG |
R1175R |
NP_001102.2 |
| NM_001193495.1 |
3571 |
Silent Mutation |
AGG,CGG |
R880R |
NP_001180424.1 |
| NM_015840.3 |
3571 |
Silent Mutation |
AGG,CGG |
R1149R |
NP_056655.2 |
| NM_015841.3 |
3571 |
Silent Mutation |
AGG,CGG |
R1130R |
NP_056656.2 |
| XM_006711109.2 |
3571 |
Silent Mutation |
AGG,CGG |
R1185R |
XP_006711172.1 |
| XM_006711111.3 |
3571 |
Silent Mutation |
AGG,CGG |
R880R |
XP_006711174.1 |
| XM_006711112.2 |
3571 |
Silent Mutation |
AGG,CGG |
R880R |
XP_006711175.1 |
| XM_006711113.2 |
3571 |
Silent Mutation |
AGG,CGG |
R880R |
XP_006711176.1 |
| XM_011509060.1 |
3571 |
Silent Mutation |
AGG,CGG |
R1218R |
XP_011507362.1 |
| XM_011509061.2 |
3571 |
Silent Mutation |
AGG,CGG |
R854R |
XP_011507363.2 |
| XM_011509062.1 |
3571 |
Silent Mutation |
AGG,CGG |
R1181R |
XP_011507364.1 |
| XM_017000037.1 |
3571 |
Silent Mutation |
AGG,CGG |
R854R |
XP_016855526.1 |
- Gene
- CHRNB2
- Gene Name
- cholinergic receptor nicotinic beta 2 subunit
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000748.2 |
3571 |
Intron |
|
|
NP_000739.1 |
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