Product Details
- SNP ID
-
rs145195351
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:46397537 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAAGGTGGTTGTTATTGGTCAACTC[A/G]CAGTGGAGGGTTGGTCCCTCAGCGC
- Phenotype
-
MIM: 611359
- Polymorphism
- A/G, Transition 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 |
4049 |
Silent Mutation |
TGC,TGT |
C1273C |
NP_001254711.1 |
| NM_001267783.1 |
4049 |
Silent Mutation |
TGC,TGT |
C1151C |
NP_001254712.1 |
| NM_001300731.1 |
4049 |
Silent Mutation |
TGC,TGT |
C1210C |
NP_001287660.1 |
| NM_017749.3 |
4049 |
Silent Mutation |
TGC,TGT |
C1180C |
NP_060219.2 |
| XM_005253009.3 |
4049 |
Silent Mutation |
TGC,TGT |
C1270C |
XP_005253066.1 |
| XM_005253011.3 |
4049 |
Silent Mutation |
TGC,TGT |
C1241C |
XP_005253068.1 |
| XM_005253014.3 |
4049 |
Silent Mutation |
TGC,TGT |
C1180C |
XP_005253071.1 |
| XM_006718259.2 |
4049 |
Silent Mutation |
TGC,TGT |
C1270C |
XP_006718322.1 |
| XM_006718260.2 |
4049 |
Silent Mutation |
TGC,TGT |
C1091C |
XP_006718323.1 |
| XM_017018007.1 |
4049 |
Silent Mutation |
TGC,TGT |
C1181C |
XP_016873496.1 |
| XM_017018008.1 |
4049 |
Intron |
|
|
XP_016873497.1 |
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