Product Details

SNP ID
rs182507413
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:136952385 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTTGCTGAAAGTCCTGCAGGCC[A/C]AGACCCCAACCCCCCTGCCACTCCC
Phenotype
MIM: 120930 MIM: 609072 MIM: 612905
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
C8G PubMed Links

Gene Details

Gene
C8G
Gene Name
complement component 8, gamma polypeptide
There are no transcripts associated with this gene.

Gene
FBXW5
Gene Name
F-box and WD repeat domain containing 5
There are no transcripts associated with this gene.

Gene
LCN12
Gene Name
lipocalin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178536.3 246 Missense Mutation AAG,CAG K20Q NP_848631.2
XM_006717065.3 246 Missense Mutation AAG,CAG K20Q XP_006717128.1
XM_011518560.2 246 Missense Mutation AAG,CAG K47Q XP_011516862.1
XM_011518561.2 246 Missense Mutation AAG,CAG K48Q XP_011516863.2
XM_011518562.2 246 Missense Mutation AAG,CAG K20Q XP_011516864.1
XM_017014631.1 246 Missense Mutation AAG,CAG K48Q XP_016870120.1
XM_017014632.1 246 Missense Mutation AAG,CAG K48Q XP_016870121.1

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