Product Details
- SNP ID
-
rs143002933
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:73984055 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGCAGCTCTCTGCATAGCAGGGCC[C/T]GCAGGTCTGCCTCGGCCATCTCCAC
- Phenotype
-
MIM: 608326
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
STOML1
PubMed Links
Gene Details
- Gene
- STOML1
- Gene Name
- stomatin like 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001256672.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q359R |
NP_001243601.1 |
| NM_001256673.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q310R |
NP_001243602.1 |
| NM_001256674.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q309R |
NP_001243603.1 |
| NM_001256675.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q289R |
NP_001243604.1 |
| NM_001256676.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q272R |
NP_001243605.1 |
| NM_001256677.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q317R |
NP_001243606.1 |
| NM_001324226.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q203R |
NP_001311155.1 |
| NM_001324227.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q273R |
NP_001311156.1 |
| NM_001324228.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q273R |
NP_001311157.1 |
| NM_001324229.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q204R |
NP_001311158.1 |
| NM_001324230.1 |
2106 |
Missense Mutation |
CAG,CGG |
Q318R |
NP_001311159.1 |
| NM_004809.4 |
2106 |
Missense Mutation |
CAG,CGG |
Q360R |
NP_004800.2 |
| XM_005254792.4 |
2106 |
Missense Mutation |
CAG,CGG |
Q318R |
XP_005254849.1 |
| XM_006720773.3 |
2106 |
Missense Mutation |
CAG,CGG |
Q317R |
XP_006720836.1 |
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