Product Details
- SNP ID
-
rs143178975
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:46397493 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCCCTAGGGCCTGCAGCGTCCCCC[C/G]TGCTGCTGCCACCATCCAGAAGGTG
- Phenotype
-
MIM: 611359
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AMBRA1
PubMed Links
Gene Details
- Gene
- AMBRA1
- Gene Name
- autophagy and beclin 1 regulator 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001267782.1 |
4093 |
Missense Mutation |
ACG,AGG |
T1288R |
NP_001254711.1 |
NM_001267783.1 |
4093 |
Missense Mutation |
ACG,AGG |
T1166R |
NP_001254712.1 |
NM_001300731.1 |
4093 |
Missense Mutation |
ACG,AGG |
T1225R |
NP_001287660.1 |
NM_017749.3 |
4093 |
Missense Mutation |
ACG,AGG |
T1195R |
NP_060219.2 |
XM_005253009.3 |
4093 |
Missense Mutation |
ACG,AGG |
T1285R |
XP_005253066.1 |
XM_005253011.3 |
4093 |
Missense Mutation |
ACG,AGG |
T1256R |
XP_005253068.1 |
XM_005253014.3 |
4093 |
Missense Mutation |
ACG,AGG |
T1195R |
XP_005253071.1 |
XM_006718259.2 |
4093 |
Missense Mutation |
ACG,AGG |
T1285R |
XP_006718322.1 |
XM_006718260.2 |
4093 |
Missense Mutation |
ACG,AGG |
T1106R |
XP_006718323.1 |
XM_017018007.1 |
4093 |
Missense Mutation |
ACG,AGG |
T1196R |
XP_016873496.1 |
XM_017018008.1 |
4093 |
Intron |
|
|
XP_016873497.1 |
View Full Product Details