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CTGACACCACACCATTGCGAACATC[A/G]GAGGATCTGGTAAGATAATGGAATA
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) - 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 |
CP - ceruloplasmin (ferroxidase) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000096.3 | 3551 | Intron | NP_000087.1 | |||
XM_006713499.2 | 3551 | UTR 3 | XP_006713562.1 | |||
XM_006713500.3 | 3551 | Intron | XP_006713563.1 | |||
XM_006713501.2 | 3551 | Intron | XP_006713564.1 | |||
XM_011512435.1 | 3551 | UTR 3 | XP_011510737.1 | |||
XM_017005734.1 | 3551 | Intron | XP_016861223.1 | |||
XM_017005735.1 | 3551 | 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 | 3551 | Silent Mutation | TCA,TCG | S,S 659 | NP_001295187.1 | |
NM_032383.4 | 3551 | Silent Mutation | TCA,TCG | S,S 824 | NP_115759.2 | |
XM_005247834.3 | 3551 | Intron | XP_005247891.1 | |||
XM_017007323.1 | 3551 | Silent Mutation | TCA,TCG | S,S 824 | XP_016862812.1 |