Product Details

SNP ID
rs113088354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:113419139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGTTTACCTGACAAAAGTTTG[A/G]TCAACTGTACTAACAGACTTCCCAA
Phenotype
MIM: 607267
Polymorphism
A/G, 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_001278629.1 726 Missense Mutation ATC,GTC I107V NP_001265558.1
NM_001278630.1 726 Missense Mutation ATC,GTC I125V NP_001265559.1
NM_152786.2 726 Missense Mutation ATC,GTC I107V NP_689999.1
XM_005251885.3 726 UTR 5 XP_005251942.1
XM_011518477.1 726 Missense Mutation ATC,GTC I107V XP_011516779.1
XM_011518478.1 726 Missense Mutation ATC,GTC I107V XP_011516780.1
XM_011518479.2 726 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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