Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGGTAGACTTTTGGGAAGCTCAGC[C/T]AGTGGCATGTCTCCCAGATGTGGTA
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 |
---|---|---|
Global - Not Available | 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 | 3666 | Intron | NP_000087.1 | |||
XM_006713499.2 | 3666 | UTR 3 | XP_006713562.1 | |||
XM_006713500.3 | 3666 | Intron | XP_006713563.1 | |||
XM_006713501.2 | 3666 | Intron | XP_006713564.1 | |||
XM_011512435.1 | 3666 | UTR 3 | XP_011510737.1 | |||
XM_017005734.1 | 3666 | Intron | XP_016861223.1 | |||
XM_017005735.1 | 3666 | 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 | 3666 | Missense Mutation | CCA,CTA | P,L 621 | NP_001295187.1 | |
NM_032383.4 | 3666 | Missense Mutation | CCA,CTA | P,L 786 | NP_115759.2 | |
XM_005247834.3 | 3666 | UTR 3 | XP_005247891.1 | |||
XM_017007323.1 | 3666 | Missense Mutation | CCA,CTA | P,L 786 | XP_016862812.1 |