Product Details

SNP ID
rs150194451
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:113413778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTAGATAAACTCCCAGTGCTCAC[C/T]GTGGTAGACATCTTAGATTCCGGCT
Phenotype
MIM: 607267
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
C9orf43 PubMed Links

Gene Details

Gene
C9orf43
Gene Name
chromosome 9 open reading frame 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278629.1 578 Silent Mutation ACC,ACT T57T NP_001265558.1
NM_001278630.1 578 Silent Mutation ACC,ACT T75T NP_001265559.1
NM_152786.2 578 Silent Mutation ACC,ACT T57T NP_689999.1
XM_005251885.3 578 Intron XP_005251942.1
XM_011518477.1 578 Silent Mutation ACC,ACT T57T XP_011516779.1
XM_011518478.1 578 Silent Mutation ACC,ACT T57T XP_011516780.1
XM_011518479.2 578 Intron XP_011516781.1
Gene
POLE3
Gene Name
DNA polymerase epsilon 3, accessory subunit
There are no transcripts associated with this gene.

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