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CGCCATGGGCGAGGAGGACTACTAT[C/G]TGGAGCTGTGCGAGCGGCCGGTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607623 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C18orf8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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C18orf8 - chromosome 18 open reading frame 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001276342.1 | 171 | Silent Mutation | CTG,GTG | L,V 8 | NP_001263271.1 | |
NM_001318707.1 | 171 | UTR 5 | NP_001305636.1 | |||
NM_001318708.1 | 171 | UTR 5 | NP_001305637.1 | |||
NM_001318709.1 | 171 | Silent Mutation | CTG,GTG | L,V 8 | NP_001305638.1 | |
NM_013326.4 | 171 | Silent Mutation | CTG,GTG | L,V 8 | NP_037458.3 | |
XM_011525939.1 | 171 | UTR 5 | XP_011524241.1 | |||
XM_017025717.1 | 171 | UTR 5 | XP_016881206.1 |
NPC1 - NPC intracellular cholesterol transporter 1 | ||||||
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There are no transcripts associated with this gene. |