Product Details
- SNP ID
-
hCV11398328
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.1:6193029 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGGTTCCCAGCTTTTCCGTTCACT[A/T]TGATCCTTTCTTGCAAAAACTGCTC
- Phenotype
-
MIM: 180474
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RPL22
PubMed Links
Gene Details
- Gene
- RPL22
- Gene Name
- ribosomal protein L22
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000983.3 |
189 |
Missense Mutation |
AAA,ATA |
K48I |
NP_000974.1 |
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