Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604982 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPS1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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HPS1 - HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000195.4 | Intron | NP_000186.2 | ||||
NM_001311345.1 | Intron | NP_001298274.1 | ||||
NM_001322476.1 | Intron | NP_001309405.1 | ||||
NM_001322477.1 | Intron | NP_001309406.1 | ||||
NM_001322478.1 | Intron | NP_001309407.1 | ||||
NM_001322479.1 | Intron | NP_001309408.1 | ||||
NM_001322480.1 | Intron | NP_001309409.1 | ||||
NM_001322481.1 | Intron | NP_001309410.1 | ||||
NM_001322482.1 | Intron | NP_001309411.1 | ||||
NM_001322483.1 | Intron | NP_001309412.1 | ||||
NM_001322484.1 | Intron | NP_001309413.1 | ||||
NM_001322485.1 | Intron | NP_001309414.1 | ||||
NM_001322487.1 | Intron | NP_001309416.1 | ||||
NM_001322489.1 | Intron | NP_001309418.1 | ||||
NM_001322490.1 | Intron | NP_001309419.1 | ||||
NM_001322491.1 | Intron | NP_001309420.1 | ||||
NM_001322492.1 | Intron | NP_001309421.1 | ||||
NM_182639.3 | Intron | NP_872577.1 | ||||
XM_005269757.4 | Intron | XP_005269814.1 | ||||
XM_017016170.1 | Intron | XP_016871659.1 | ||||
XM_017016171.1 | Intron | XP_016871660.1 | ||||
XM_017016172.1 | Intron | XP_016871661.1 | ||||
XM_017016173.1 | Intron | XP_016871662.1 |
PYROXD2 - pyridine nucleotide-disulphide oxidoreductase domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032709.2 | Intron | NP_116098.2 | ||||
XM_011540293.2 | Intron | XP_011538595.1 | ||||
XM_011540301.2 | Intron | XP_011538603.1 | ||||
XM_017016835.1 | Intron | XP_016872324.1 | ||||
XM_017016836.1 | Intron | XP_016872325.1 | ||||
XM_017016837.1 | Intron | XP_016872326.1 | ||||
XM_017016838.1 | Intron | XP_016872327.1 | ||||
XM_017016839.1 | Intron | XP_016872328.1 | ||||
XM_017016840.1 | Intron | XP_016872329.1 | ||||
XM_017016841.1 | Intron | XP_016872330.1 |
Set Membership: |
HapMap |