Product Details
- SNP ID
-
rs201520272
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:35738122 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGACATAACACTACGAGACTGAGGC[C/T]GAGAGCTGCTGTCATAGTTGTAATA
- Phenotype
-
MIM: 606443
MIM: 609471
MIM: 186745
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CREB3
PubMed Links
Gene Details
- Gene
- CREB3
- Gene Name
- cAMP responsive element binding protein 3
There are no transcripts associated with this gene.
- Gene
- GBA2
- Gene Name
- glucosylceramidase beta 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_020944.2 |
2731 |
Missense Mutation |
CAG,CGG |
Q743R |
NP_065995.1 |
| XM_005251526.4 |
2731 |
Missense Mutation |
CAG,CGG |
Q727R |
XP_005251583.1 |
| XM_006716809.3 |
2731 |
Missense Mutation |
CAG,CGG |
Q749R |
XP_006716872.1 |
| XM_011517973.2 |
2731 |
Missense Mutation |
CAG,CGG |
Q743R |
XP_011516275.1 |
| XM_017014937.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q721R |
XP_016870426.1 |
| XM_017014938.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q749R |
XP_016870427.1 |
| XM_017014939.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q721R |
XP_016870428.1 |
| XM_017014940.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q670R |
XP_016870429.1 |
| XM_017014941.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q670R |
XP_016870430.1 |
| XM_017014942.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q598R |
XP_016870431.1 |
| XM_017014943.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q592R |
XP_016870432.1 |
| XM_017014944.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q564R |
XP_016870433.1 |
| XM_017014945.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q558R |
XP_016870434.1 |
| XM_017014946.1 |
2731 |
Missense Mutation |
CAG,CGG |
Q456R |
XP_016870435.1 |
- Gene
- MIR6853
- Gene Name
- microRNA 6853
There are no transcripts associated with this gene.
- Gene
- TLN1
- Gene Name
- talin 1
There are no transcripts associated with this gene.
View Full Product Details