Product Details
- SNP ID
-
hCV12009814
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:20164904 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAAACTCTCTCACAATTACCTCTG[G/A]TGCAACAAAATTTGCAGTGTAACAA
- Phenotype
-
MIM: 300075
- Polymorphism
- G/A, Transition 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 |
1759 |
Missense Mutation |
CCA,TCA |
P587S |
NP_004577.1 |
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