Product Details
- SNP ID
-
rs146652264
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:196554747 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTGGGCCTTCCATTTCTTCTGTTT[C/G]ATCCTCCTGTAAATTTGTAATCCAG
- Phenotype
-
MIM: 615110
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
WDR53
PubMed Links
Gene Details
- Gene
- WDR53
- Gene Name
- WD repeat domain 53
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_182627.1 |
1012 |
Missense Mutation |
CAA,GAA |
Q181E |
NP_872433.1 |
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