Product Details
- SNP ID
-
rs200915621
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:202348904 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGCGGGCAGAGTCGGCGCGAATGC[A/G]GCGGGCAGAGCAGCTTCGGCGCTGG
- Phenotype
-
MIM: 603768
MIM: 610538
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PPP1R12B
PubMed Links
Gene Details
- Gene
- PPP1R12B
- Gene Name
- protein phosphatase 1 regulatory subunit 12B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001167857.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
NP_001161329.1 |
NM_001167858.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
NP_001161330.1 |
NM_001197131.1 |
203 |
Intron |
|
|
NP_001184060.1 |
NM_002481.3 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
NP_002472.2 |
NM_032103.2 |
203 |
Intron |
|
|
NP_115286.1 |
NM_032104.2 |
203 |
Intron |
|
|
NP_115287.1 |
XM_005245206.4 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_005245263.1 |
XM_017001342.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856831.1 |
XM_017001343.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856832.1 |
XM_017001344.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856833.1 |
XM_017001345.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856834.1 |
XM_017001346.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856835.1 |
XM_017001347.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856836.1 |
XM_017001348.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856837.1 |
XM_017001349.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856838.1 |
XM_017001350.1 |
203 |
UTR 5 |
|
|
XP_016856839.1 |
XM_017001351.1 |
203 |
Missense Mutation |
CAG,CGG |
Q18R |
XP_016856840.1 |
XM_017001352.1 |
203 |
Intron |
|
|
XP_016856841.1 |
XM_017001353.1 |
203 |
Intron |
|
|
XP_016856842.1 |
XM_017001354.1 |
203 |
Intron |
|
|
XP_016856843.1 |
XM_017001355.1 |
203 |
Intron |
|
|
XP_016856844.1 |
- Gene
- UBE2T
- Gene Name
- ubiquitin conjugating enzyme E2 T
There are no transcripts associated with this gene.
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