Product Details
- SNP ID
-
rs145797978
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:60223478 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCTGGTTTCTGAGGGTTAAGGTGC[A/T]ACAAAATATTCCCATTGGCTCCCAG
- Phenotype
-
MIM: 607740
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SCARNA20
PubMed Links
Gene Details
- Gene
- SCARNA20
- Gene Name
- small Cajal body-specific RNA 20
There are no transcripts associated with this gene.
- Gene
- USP32
- Gene Name
- ubiquitin specific peptidase 32
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_032582.3 |
1041 |
Nonsense Mutation |
TAG,TTG |
*514L |
NP_115971.2 |
| XM_011525371.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*530L |
XP_011523673.1 |
| XM_011525372.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*530L |
XP_011523674.1 |
| XM_011525373.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*514L |
XP_011523675.1 |
| XM_011525374.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*511L |
XP_011523676.1 |
| XM_011525375.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*504L |
XP_011523677.1 |
| XM_011525376.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*511L |
XP_011523678.1 |
| XM_011525378.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*468L |
XP_011523680.1 |
| XM_011525379.2 |
1041 |
Nonsense Mutation |
TAG,TTG |
*223L |
XP_011523681.1 |
| XM_017025233.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*468L |
XP_016880722.1 |
| XM_017025234.1 |
1041 |
Nonsense Mutation |
TAG,TTG |
*184L |
XP_016880723.1 |
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