Product Details

SNP ID
rs201979630
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140632323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGCTAGATTCTGGATGGCCGGGA[A/G]CTTGTGGGGACAGAGAGCCGCCATC
Phenotype
MIM: 158120
Polymorphism
A/G, Transition 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 1053 Missense Mutation CTC,TTC L221F NP_000582.1
NM_001040021.2 1053 Missense Mutation CTC,TTC L221F NP_001035110.1
NM_001174104.1 1053 Missense Mutation CTC,TTC L221F NP_001167575.1
NM_001174105.1 1053 Missense Mutation CTC,TTC L221F 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 1053 Intron NP_001287909.1
NM_001300982.1 1053 Intron NP_001287911.1
NM_018502.4 1053 Intron NP_060972.3
XM_005268477.1 1053 Intron XP_005268534.1
XM_011537663.2 1053 Intron XP_011535965.1
XM_011537665.2 1053 Intron XP_011535967.1
XM_011537668.2 1053 Intron XP_011535970.1
XM_017009617.1 1053 Intron XP_016865106.1
XM_017009618.1 1053 Intron XP_016865107.1
XM_017009619.1 1053 Intron XP_016865108.1
XM_017009620.1 1053 Intron XP_016865109.1

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