Product Details
- SNP ID
-
rs201178949
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:32182608 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GATTTGAGGAGAGGGCTGGGCAGGG[A/T]CTTCACAGGTCAGGGTTACGGTTCC
- Phenotype
-
MIM: 600214
MIM: 603099
MIM: 176311
MIM: 602677
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AGER
PubMed Links
Gene Details
- Gene
- AGER
- Gene Name
- advanced glycosylation end product-specific receptor
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001136.4 |
930 |
Missense Mutation |
GAC,GTC |
D261V |
NP_001127.1 |
| NM_001206929.1 |
930 |
Missense Mutation |
GAC,GTC |
D277V |
NP_001193858.1 |
| NM_001206932.1 |
930 |
Missense Mutation |
GAC,GTC |
D247V |
NP_001193861.1 |
| NM_001206934.1 |
930 |
Missense Mutation |
GAC,GTC |
D277V |
NP_001193863.1 |
| NM_001206936.1 |
930 |
Missense Mutation |
GAC,GTC |
D261V |
NP_001193865.1 |
| NM_001206940.1 |
930 |
Missense Mutation |
GAC,GTC |
D261V |
NP_001193869.1 |
| NM_001206954.1 |
930 |
Missense Mutation |
GAC,GTC |
D261V |
NP_001193883.1 |
| NM_001206966.1 |
930 |
Missense Mutation |
GAC,GTC |
D261V |
NP_001193895.1 |
| NM_172197.2 |
930 |
Missense Mutation |
GAC,GTC |
D247V |
NP_751947.1 |
| XM_017010328.1 |
930 |
Missense Mutation |
GAC,GTC |
D308V |
XP_016865817.1 |
- Gene
- AGPAT1
- Gene Name
- 1-acylglycerol-3-phosphate O-acyltransferase 1
There are no transcripts associated with this gene.
- Gene
- GPSM3
- Gene Name
- G-protein signaling modulator 3
There are no transcripts associated with this gene.
- Gene
- MIR6833
- Gene Name
- microRNA 6833
There are no transcripts associated with this gene.
- Gene
- PBX2
- Gene Name
- PBX homeobox 2
There are no transcripts associated with this gene.
- Gene
- RNF5
- Gene Name
- ring finger protein 5
There are no transcripts associated with this gene.
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