Product Details
- SNP ID
-
rs186684886
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:132618825 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGGGCCGCCCGCGCCATGGCCGC[C/T]GCCCAGCCCAAGTACCCCGCCGGGG
- Phenotype
-
MIM: 600844
MIM: 174762
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LRCOL1
PubMed Links
Gene Details
- Gene
- LRCOL1
- Gene Name
- leucine rich colipase like 1
There are no transcripts associated with this gene.
- Gene
- P2RX2
- Gene Name
- purinergic receptor P2X 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001282164.1 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_001269093.1 |
| NM_001282165.1 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_001269094.1 |
| NM_012226.4 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_036358.2 |
| NM_016318.3 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_057402.1 |
| NM_170682.3 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_733782.1 |
| NM_170683.3 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_733783.1 |
| NM_174872.2 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_777361.1 |
| NM_174873.2 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
NP_777362.1 |
| XM_005266154.3 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
XP_005266211.1 |
| XM_005266155.4 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
XP_005266212.1 |
| XM_005266156.4 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
XP_005266213.1 |
| XM_011534786.2 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
XP_011533088.1 |
| XM_017019035.1 |
46 |
Silent Mutation |
GCC,GCT |
A3A |
XP_016874524.1 |
- Gene
- POLE
- Gene Name
- DNA polymerase epsilon, catalytic subunit
There are no transcripts associated with this gene.
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