Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608010 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NPC1L1 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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NPC1L1 - NPC1 like intracellular cholesterol transporter 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101648.1 | 3496 | Missense Mutation | AAG,GAG | K,E 1281 | NP_001095118.1 | |
NM_001300967.1 | 3496 | Intron | NP_001287896.1 | |||
NM_013389.2 | 3496 | Missense Mutation | AAG,GAG | K,E 1308 | NP_037521.2 | |
XM_011515326.2 | 3496 | Missense Mutation | AAG,GAG | K,E 1216 | XP_011513628.1 | |
XM_011515327.2 | 3496 | Intron | XP_011513629.1 | |||
XM_011515328.2 | 3496 | Missense Mutation | AAG,GAG | K,E 734 | XP_011513630.1 |