Product Details
- SNP ID
-
rs199883994
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:14879174 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAATATCCACTGCTGTCCAGAAATC[A/G]CTCAGGATGGAACACTTCTGGGTCT
- Phenotype
-
MIM: 608713
MIM: 602047
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CYP2R1
PubMed Links
Gene Details
- Gene
- CYP2R1
- Gene Name
- cytochrome P450 family 2 subfamily R member 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_024514.4 |
1575 |
Nonsense Mutation |
CGA,TGA |
R424* |
NP_078790.2 |
| XM_005252788.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R376* |
XP_005252845.1 |
| XM_005252789.2 |
1575 |
Nonsense Mutation |
CGA,TGA |
R370* |
XP_005252846.1 |
| XM_011519895.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_011518197.1 |
| XM_011519898.2 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_011518200.1 |
| XM_017017190.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R369* |
XP_016872679.1 |
| XM_017017191.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_016872680.1 |
| XM_017017192.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_016872681.1 |
| XM_017017193.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_016872682.1 |
| XM_017017194.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_016872683.1 |
| XM_017017195.1 |
1575 |
Nonsense Mutation |
CGA,TGA |
R309* |
XP_016872684.1 |
- Gene
- PDE3B
- Gene Name
- phosphodiesterase 3B
There are no transcripts associated with this gene.
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