Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 117700 MIM: 606118 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CP 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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CP - ceruloplasmin (ferroxidase) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000096.3 | 2641 | Intron | NP_000087.1 | |||
XM_006713499.2 | 2641 | Intron | XP_006713562.1 | |||
XM_006713500.3 | 2641 | Intron | XP_006713563.1 | |||
XM_006713501.2 | 2641 | Intron | XP_006713564.1 | |||
XM_011512435.1 | 2641 | Intron | XP_011510737.1 | |||
XM_017005734.1 | 2641 | Intron | XP_016861223.1 | |||
XM_017005735.1 | 2641 | Intron | XP_016861224.1 |
HPS3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308258.1 | 2641 | Silent Mutation | CAC,CAT | H,H 677 | NP_001295187.1 | |
NM_032383.4 | 2641 | Silent Mutation | CAC,CAT | H,H 842 | NP_115759.2 | |
XM_005247834.3 | 2641 | Intron | XP_005247891.1 | |||
XM_017007323.1 | 2641 | Silent Mutation | CAC,CAT | H,H 842 | XP_016862812.1 |
Set Membership: |
HapMap |