Product Details
- SNP ID
-
rs201505989
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:99400613 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGACCTTTGAGATTTCTCCACGGAT[C/T]GCGATCGACTATGTTTAGGCTTCTT
- Phenotype
-
MIM: 605196
MIM: 616653
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
COQ3
PubMed Links
Gene Details
- Gene
- COQ3
- Gene Name
- coenzyme Q3, methyltransferase
There are no transcripts associated with this gene.
- Gene
- PNISR
- Gene Name
- PNN interacting serine and arginine rich protein
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001322405.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309334.1 |
NM_001322406.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309335.1 |
NM_001322408.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309337.1 |
NM_001322410.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309339.1 |
NM_001322412.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309341.1 |
NM_001322413.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_001309342.1 |
NM_001322414.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q764R |
NP_001309343.1 |
NM_001322415.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q764R |
NP_001309344.1 |
NM_001322416.1 |
2507 |
Intron |
|
|
NP_001309345.1 |
NM_001322417.1 |
2507 |
Intron |
|
|
NP_001309346.1 |
NM_001322418.1 |
2507 |
Intron |
|
|
NP_001309347.1 |
NM_001322419.1 |
2507 |
Intron |
|
|
NP_001309348.1 |
NM_015491.2 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_056306.1 |
NM_032870.3 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
NP_116259.2 |
XM_005266912.3 |
2507 |
Missense Mutation |
CAA,CGA |
Q782R |
XP_005266969.2 |
XM_017010710.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q764R |
XP_016866199.1 |
XM_017010711.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q764R |
XP_016866200.1 |
XM_017010712.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q687R |
XP_016866201.1 |
XM_017010713.1 |
2507 |
Missense Mutation |
CAA,CGA |
Q687R |
XP_016866202.1 |
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