Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGTCGCCTTGCTCCTCGCCGCGGCG[A/G]GGACTGCAGGTAAGGCTTGCTCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606945 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LDLR 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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LDLR - low density lipoprotein receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000527.4 | 245 | Missense Mutation | AGG,GGG | R,G 20 | NP_000518.1 | |
NM_001195798.1 | 245 | Missense Mutation | AGG,GGG | R,G 20 | NP_001182727.1 | |
NM_001195799.1 | 245 | Missense Mutation | AGG,GGG | R,G 20 | NP_001182728.1 | |
NM_001195800.1 | 245 | Missense Mutation | AGG,GGG | R,G 20 | NP_001182729.1 | |
NM_001195803.1 | 245 | Missense Mutation | AGG,GGG | R,G 20 | NP_001182732.1 | |
XM_011528010.1 | 245 | Missense Mutation | AGG,GGG | R,G 20 | XP_011526312.1 |