Product Details
- SNP ID
-
rs142480469
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:70063239 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GACCCCCATCGAGGTGATCCAGGCC[A/G]ACTCGCCCACCTTGATCATCGGGGA
- Phenotype
-
MIM: 300714
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
OTUD6A
PubMed Links
Gene Details
- Gene
- OTUD6A
- Gene Name
- OTU deubiquitinase 6A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_207320.2 |
749 |
Missense Mutation |
AAC,GAC |
N239D |
NP_997203.1 |
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