Product Details
- SNP ID
-
hCV27863774
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:20165053 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGTTGCTAGGTTTCAAGTCTCTA[A/T]GAACCACCTAATTGAAATACAAATT
- Phenotype
-
MIM: 300075
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RPS6KA3
PubMed Links
Gene Details
- Gene
- RPS6KA3
- Gene Name
- ribosomal protein S6 kinase A3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_004586.2 |
1610 |
Missense Mutation |
CAT,CTT |
H537L |
NP_004577.1 |
View Full Product Details