Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACTGCTGCCACCGCCTCCTCAGCCC[A/G]CTTCTGCTCCAGTGCCAGAGCCGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 608010 | ||||||||||||||||||||
Literature Links: |
NPC1L1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NPC1L1 - NPC1 like intracellular cholesterol transporter 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101648.1 | 3490 | Silent Mutation | NP_001095118.1 | |||
NM_001300967.1 | 3490 | Intron | NP_001287896.1 | |||
NM_013389.2 | 3490 | Silent Mutation | NP_037521.2 | |||
XM_011515326.2 | 3490 | Silent Mutation | XP_011513628.1 | |||
XM_011515327.2 | 3490 | Intron | XP_011513629.1 | |||
XM_011515328.2 | 3490 | Missense Mutation | XP_011513630.1 |