Product Details

SNP ID
rs188727314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:109740897 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAGAGAGAGATCACAATTTTAT[A/G]CATTGTACTGAGAAATAAAAGGCCT
Phenotype
MIM: 217030
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 1981 Missense Mutation GCA,GTA A583V NP_000195.2
NM_001318057.1 1981 Missense Mutation GCA,GTA A591V NP_001304986.1
XM_005262976.1 1981 Missense Mutation GCA,GTA A576V XP_005263033.1
XM_006714209.1 1981 Missense Mutation GCA,GTA A590V XP_006714272.1
XM_006714210.3 1981 Intron XP_006714273.1
XM_011531920.1 1981 Intron XP_011530222.1
XM_017008164.1 1981 Intron XP_016863653.1
XM_017008165.1 1981 Intron XP_016863654.1
XM_017008166.1 1981 Intron XP_016863655.1

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