Product Details
- SNP ID
-
rs148197780
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:42815995 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATAACGCATCTGGTTTTCAACACTC[C/T]TCAGCTCATCATCCAGCTCCAGCTG
- Phenotype
-
MIM: 604378
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BECN1
PubMed Links
Gene Details
- Gene
- BECN1
- Gene Name
- beclin 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001313998.1 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
NP_001300927.1 |
| NM_001313999.1 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
NP_001300928.1 |
| NM_001314000.1 |
745 |
Missense Mutation |
AAG,AGG |
K172R |
NP_001300929.1 |
| NM_003766.4 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
NP_003757.1 |
| XM_005257759.2 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_005257816.1 |
| XM_005257760.3 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_005257817.1 |
| XM_011525421.2 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_011523723.1 |
| XM_017025262.1 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_016880751.1 |
| XM_017025263.1 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_016880752.1 |
| XM_017025264.1 |
745 |
Missense Mutation |
AAG,AGG |
K248R |
XP_016880753.1 |
- Gene
- CNTD1
- Gene Name
- cyclin N-terminal domain containing 1
There are no transcripts associated with this gene.
- Gene
- MIR6781
- Gene Name
- microRNA 6781
There are no transcripts associated with this gene.
View Full Product Details