Product Details

SNP ID
rs303758
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23504967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGATGATAAGCTATCTGGCCAC[C/T]GTAACACTGGTGCTTACAGAAGGTG
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 Intron NP_001263271.1
NM_001318707.1 Intron NP_001305636.1
NM_001318708.1 Intron NP_001305637.1
NM_001318709.1 Intron NP_001305638.1
NM_013326.4 Intron NP_037458.3
XM_011525939.1 Intron XP_011524241.1
XM_017025717.1 Intron XP_016881206.1
Gene
NPC1
Gene Name
NPC intracellular cholesterol transporter 1
There are no transcripts associated with this gene.

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