Product Details

SNP ID
rs115705612
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:109732244 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTTCTTTGTCTGATCTCTCCTT[A/G]GGGATTAAATTCTCAAATGCCAGTT
Phenotype
MIM: 217030 MIM: 611652
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CFI PubMed Links

Gene Details

Gene
CFI
Gene Name
complement factor I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000204.4 Intron NP_000195.2
NM_001318057.1 Intron NP_001304986.1
XM_005262976.1 Intron XP_005263033.1
XM_006714209.1 Intron XP_006714272.1
XM_006714210.3 Intron XP_006714273.1
XM_011531920.1 Intron XP_011530222.1
XM_017008164.1 Intron XP_016863653.1
XM_017008165.1 Intron XP_016863654.1
XM_017008166.1 Intron XP_016863655.1
Gene
PLA2G12A
Gene Name
phospholipase A2 group XIIA
There are no transcripts associated with this gene.

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