Product Details
- SNP ID
-
rs189008673
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:56739324 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGTCGGAACAGTAAATGGATCAAAC[C/T]GGTCCACTTTCTGCAAATCAATAGG
- Phenotype
-
MIM: 176635
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PRIM1
PubMed Links
Gene Details
- Gene
- PRIM1
- Gene Name
- primase (DNA) subunit 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000946.2 |
1086 |
Missense Mutation |
CAG,CGG |
Q341R |
NP_000937.1 |
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