Product Details

SNP ID
rs143371359
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23516342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTGGCACTATGTCGAAGCTGC[C/T]CAAATTTGAGATTGAATTACCAGCT
Phenotype
MIM: 607623
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C18orf8 PubMed Links

Gene Details

Gene
C18orf8
Gene Name
chromosome 18 open reading frame 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276342.1 492 Missense Mutation CCC,CTC P143L NP_001263271.1
NM_001318707.1 492 Missense Mutation CCC,CTC P34L NP_001305636.1
NM_001318708.1 492 Missense Mutation CCC,CTC P34L NP_001305637.1
NM_001318709.1 492 Missense Mutation CCC,CTC P143L NP_001305638.1
NM_013326.4 492 Missense Mutation CCC,CTC P191L NP_037458.3
XM_011525939.1 492 Missense Mutation CCC,CTC P34L XP_011524241.1
XM_017025717.1 492 Missense Mutation CCC,CTC P34L XP_016881206.1
Gene
NPC1
Gene Name
NPC intracellular cholesterol transporter 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000271.4 492 Intron NP_000262.2
XM_005258277.1 492 Intron XP_005258334.1
XM_005258278.4 492 Intron XP_005258335.1
XM_005258279.2 492 Intron XP_005258336.1
XM_006722479.3 492 Intron XP_006722542.1
XM_011526015.1 492 Intron XP_011524317.1
XM_017025784.1 492 Intron XP_016881273.1
XM_017025785.1 492 Intron XP_016881274.1
XM_017025786.1 492 Intron XP_016881275.1
XM_017025787.1 492 Intron XP_016881276.1

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