Product Details

SNP ID
rs183241138
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:57318554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTTGCAGCCACCTTCTGAAAAC[A/T]TATCTTTAATAGAATTTGAAAACTT
Phenotype
MIM: 176636
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PRIM2 PubMed Links

Gene Details

Gene
PRIM2
Gene Name
primase (DNA) subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000947.4 203 Missense Mutation ATA,TTA I37L NP_000938.2
NM_001282487.1 203 Missense Mutation ATA,TTA I37L NP_001269416.1
NM_001282488.1 203 Missense Mutation ATA,TTA I37L NP_001269417.1
XM_011514731.2 203 Intron XP_011513033.1
XM_017011004.1 203 Missense Mutation ATA,TTA I37L XP_016866493.1
XM_017011005.1 203 Missense Mutation ATA,TTA I37L XP_016866494.1
XM_017011006.1 203 Missense Mutation ATA,TTA I37L XP_016866495.1
XM_017011007.1 203 UTR 5 XP_016866496.1

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