Product Details
- SNP ID
-
rs200187877
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:23795829 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCAGCTAGGGAACATGTTACCTG[C/T]GCAAGCTTCTCTGAGCTTCTTTCAG
- Phenotype
-
MIM: 604517
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PPARGC1A
PubMed Links
Gene Details
- Gene
- PPARGC1A
- Gene Name
- PPARG coactivator 1 alpha
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_013261.3 |
2225 |
Missense Mutation |
CAC,CGC |
H797R |
NP_037393.1 |
| XM_005248131.4 |
2225 |
Missense Mutation |
CAC,CGC |
H801R |
XP_005248188.1 |
| XM_005248132.1 |
2225 |
Missense Mutation |
CAC,CGC |
H794R |
XP_005248189.1 |
| XM_005248134.4 |
2225 |
UTR 3 |
|
|
XP_005248191.1 |
| XM_011513765.2 |
2225 |
Missense Mutation |
CAC,CGC |
H785R |
XP_011512067.1 |
| XM_011513766.1 |
2225 |
Missense Mutation |
CAC,CGC |
H762R |
XP_011512068.1 |
| XM_011513767.2 |
2225 |
Missense Mutation |
CAC,CGC |
H762R |
XP_011512069.1 |
| XM_011513768.1 |
2225 |
Missense Mutation |
CAC,CGC |
H762R |
XP_011512070.1 |
| XM_011513769.2 |
2225 |
Intron |
|
|
XP_011512071.1 |
| XM_011513770.2 |
2225 |
Missense Mutation |
CAC,CGC |
H670R |
XP_011512072.1 |
| XM_011513771.1 |
2225 |
Missense Mutation |
CAC,CGC |
H670R |
XP_011512073.1 |
| XM_017007664.1 |
2225 |
Missense Mutation |
CAC,CGC |
H802R |
XP_016863153.1 |
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