Product Details
- SNP ID
-
rs182246929
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:5995554 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATACCTTTGCTGGGTCACAAGGCC[A/G]CCGGTTGATAAAGAAAAACTGTCTG
- Phenotype
-
MIM: 600259
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PMS2
PubMed Links
Gene Details
- Gene
- PMS2
- Gene Name
- PMS1 homolog 2, mismatch repair system component
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000535.6 |
916 |
Missense Mutation |
CGG,TGG |
R295W |
NP_000526.2 |
| NM_001322003.1 |
916 |
Missense Mutation |
CGG,TGG |
R160W |
NP_001308932.1 |
| NM_001322004.1 |
916 |
Missense Mutation |
CGG,TGG |
R160W |
NP_001308933.1 |
| NM_001322005.1 |
916 |
Missense Mutation |
CGG,TGG |
R160W |
NP_001308934.1 |
| NM_001322006.1 |
916 |
Missense Mutation |
CGG,TGG |
R295W |
NP_001308935.1 |
| NM_001322007.1 |
916 |
Missense Mutation |
CGG,TGG |
R189W |
NP_001308936.1 |
| NM_001322008.1 |
916 |
Missense Mutation |
CGG,TGG |
R189W |
NP_001308937.1 |
| NM_001322009.1 |
916 |
Missense Mutation |
CGG,TGG |
R160W |
NP_001308938.1 |
| NM_001322010.1 |
916 |
Missense Mutation |
CGG,TGG |
R160W |
NP_001308939.1 |
| NM_001322011.1 |
916 |
UTR 5 |
|
|
NP_001308940.1 |
| NM_001322012.1 |
916 |
UTR 5 |
|
|
NP_001308941.1 |
| NM_001322013.1 |
916 |
Missense Mutation |
CGG,TGG |
R104W |
NP_001308942.1 |
| NM_001322014.1 |
916 |
Missense Mutation |
CGG,TGG |
R295W |
NP_001308943.1 |
| NM_001322015.1 |
916 |
Missense Mutation |
CGG,TGG |
R192W |
NP_001308944.1 |
| XM_006715744.3 |
916 |
Intron |
|
|
XP_006715807.1 |
| XM_017012342.1 |
916 |
Intron |
|
|
XP_016867831.1 |
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