Product Details
- SNP ID
-
rs143501382
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:18481232 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCTGAGGGGGCCAAGACGTCGGA[A/G]GAGCAGCAAGCGGGCTGAAGCACCA
- Phenotype
-
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KLHDC7A
PubMed Links
Gene Details
- Gene
- KLHDC7A
- Gene Name
- kelch domain containing 7A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_152375.2 |
303 |
Missense Mutation |
AAG,AGG |
K84R |
NP_689588.2 |
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