Product Details

SNP ID
rs199741983
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:42585871 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGAAGAGTGCCTTCAGGATGGTGT[C/G]AGGGTCCACTTCGGCAGGGGGGTTG
Phenotype
MIM: 611520
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
POLDIP3 PubMed Links

Gene Details

Gene
POLDIP3
Gene Name
DNA polymerase delta interacting protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278657.1 1291 Missense Mutation CAC,GAC H413D NP_001265586.1
NM_032311.4 1291 Missense Mutation CAC,GAC H396D NP_115687.2
NM_178136.2 1291 Missense Mutation CAC,GAC H367D NP_835237.1
XM_011530457.1 1291 UTR 3 XP_011528759.1
XM_017029010.1 1291 UTR 3 XP_016884499.1
XM_017029011.1 1291 Intron XP_016884500.1
Gene
RRP7BP
Gene Name
ribosomal RNA processing 7 homolog B, pseudogene
There are no transcripts associated with this gene.

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