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CGGCAGCGCGCCCTTGCCCCAGGAC[C/G]GGGGCTTCCTCGTGGTGCAGGGCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602005 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC105369536 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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LOC105369536 - uncharacterized LOC105369536 | ||||||
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There are no transcripts associated with this gene. |
SORL1 - sortilin related receptor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003105.5 | 265 | Missense Mutation | CGG,GGG | R,G 46 | NP_003096.1 | |
XM_011542963.2 | 265 | Missense Mutation | CGG,GGG | R,G 46 | XP_011541265.1 | |
XM_011542965.2 | 265 | Intron | XP_011541267.1 | |||
XM_011542967.2 | 265 | Intron | XP_011541269.1 | |||
XM_017018169.1 | 265 | Intron | XP_016873658.1 | |||
XM_017018170.1 | 265 | Intron | XP_016873659.1 | |||
XM_017018171.1 | 265 | Missense Mutation | CGG,GGG | R,G 46 | XP_016873660.1 | |
XM_017018172.1 | 265 | Intron | XP_016873661.1 |