Product Details

SNP ID
rs117016330
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:32414349 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTGTCTGCTTATCAGGTTCAGA[C/T]CTTCCCATACGTGGAAACTTGGCTG
Phenotype
MIM: 614109 MIM: 613901
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BPIFC PubMed Links

Gene Details

Gene
BPIFC
Gene Name
BPI fold containing family C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174932.2 1615 Missense Mutation GAT,GGT D493G NP_777592.1
XM_011530088.2 1615 Missense Mutation GAT,GGT D493G XP_011528390.1
XM_011530089.1 1615 Missense Mutation GAT,GGT D493G XP_011528391.1
XM_011530090.1 1615 Missense Mutation GAT,GGT D493G XP_011528392.1
XM_011530091.2 1615 Missense Mutation GAT,GGT D441G XP_011528393.1
XM_017028740.1 1615 Missense Mutation GAT,GGT D436G XP_016884229.1
Gene
RTCB
Gene Name
RNA 2',3'-cyclic phosphate and 5'-OH ligase
There are no transcripts associated with this gene.

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