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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