Product Details

SNP ID
rs143190948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140632259 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACACCTGCCGCCGCCAGTGCG[G/T]CGCACACGCCTGTGGGCGTCTCCAT
Phenotype
MIM: 158120
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CD14 PubMed Links

Gene Details

Gene
CD14
Gene Name
CD14 molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000591.3 1117 Missense Mutation GAC,GCC D242A NP_000582.1
NM_001040021.2 1117 Missense Mutation GAC,GCC D242A NP_001035110.1
NM_001174104.1 1117 Missense Mutation GAC,GCC D242A NP_001167575.1
NM_001174105.1 1117 Missense Mutation GAC,GCC D242A NP_001167576.1
Gene
TMCO6
Gene Name
transmembrane and coiled-coil domains 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300980.1 1117 Intron NP_001287909.1
NM_001300982.1 1117 Intron NP_001287911.1
NM_018502.4 1117 Intron NP_060972.3
XM_005268477.1 1117 Intron XP_005268534.1
XM_011537663.2 1117 Intron XP_011535965.1
XM_011537665.2 1117 Intron XP_011535967.1
XM_011537668.2 1117 Intron XP_011535970.1
XM_017009617.1 1117 Intron XP_016865106.1
XM_017009618.1 1117 Intron XP_016865107.1
XM_017009619.1 1117 Intron XP_016865108.1
XM_017009620.1 1117 Intron XP_016865109.1

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