Product Details

SNP ID
rs7245127
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23515960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCCGTGATCTTGCTGTCTACCAC[A/G]GTCCTGGAGAATGTCCTGCAGCCTT
Phenotype
MIM: 607623
Polymorphism
A/G, 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_001276342.1 433 Silent Mutation ACA,ACG T123T NP_001263271.1
NM_001318707.1 433 Silent Mutation ACA,ACG T14T NP_001305636.1
NM_001318708.1 433 Silent Mutation ACA,ACG T14T NP_001305637.1
NM_001318709.1 433 Silent Mutation ACA,ACG T123T NP_001305638.1
NM_013326.4 433 Silent Mutation ACA,ACG T171T NP_037458.3
XM_011525939.1 433 Silent Mutation ACA,ACG T14T XP_011524241.1
XM_017025717.1 433 Silent Mutation ACA,ACG T14T 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_000271.4 433 Intron NP_000262.2
XM_005258277.1 433 Intron XP_005258334.1
XM_005258278.4 433 Intron XP_005258335.1
XM_005258279.2 433 Intron XP_005258336.1
XM_006722479.3 433 Intron XP_006722542.1
XM_011526015.1 433 Intron XP_011524317.1
XM_017025784.1 433 Intron XP_016881273.1
XM_017025785.1 433 Intron XP_016881274.1
XM_017025786.1 433 Intron XP_016881275.1
XM_017025787.1 433 Intron XP_016881276.1

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