Product Details
- SNP ID
-
rs138137225
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:48923252 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTAGGTATTCCTGTTGGGACACTGC[A/C]AGCACCGAAGCTAGGATCTCATCAT
- Phenotype
-
MIM: 300713
MIM: 300295
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
OTUD5
PubMed Links
Gene Details
- Gene
- OTUD5
- Gene Name
- OTU deubiquitinase 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001136157.1 |
2449 |
Silent Mutation |
CTG,CTT |
L541L |
NP_001129629.1 |
NM_001136158.1 |
2449 |
Silent Mutation |
CTG,CTT |
L541L |
NP_001129630.1 |
NM_001136159.1 |
2449 |
Silent Mutation |
CTG,CTT |
L324L |
NP_001129631.1 |
NM_017602.3 |
2449 |
Silent Mutation |
CTG,CTT |
L546L |
NP_060072.1 |
XM_005272622.3 |
2449 |
Silent Mutation |
CTG,CTT |
L542L |
XP_005272679.1 |
XM_005278039.3 |
2449 |
Silent Mutation |
CTG,CTT |
L547L |
XP_005278096.1 |
XM_005278042.4 |
2449 |
Silent Mutation |
CTG,CTT |
L330L |
XP_005278099.1 |
XM_006724537.2 |
2449 |
Silent Mutation |
CTG,CTT |
L546L |
XP_006724600.1 |
XM_011543932.1 |
2449 |
Silent Mutation |
CTG,CTT |
L547L |
XP_011542234.1 |
XM_011543934.2 |
2449 |
Silent Mutation |
CTG,CTT |
L309L |
XP_011542236.1 |
XM_017029628.1 |
2449 |
Silent Mutation |
CTG,CTT |
L542L |
XP_016885117.1 |
XM_017029629.1 |
2449 |
Silent Mutation |
CTG,CTT |
L330L |
XP_016885118.1 |
XM_017029630.1 |
2449 |
Silent Mutation |
CTG,CTT |
L329L |
XP_016885119.1 |
- Gene
- PIM2
- Gene Name
- Pim-2 proto-oncogene, serine/threonine kinase
There are no transcripts associated with this gene.
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