Product Details

SNP ID
rs112002460
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149162754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTAGACTTTTGGGAAGCTCAGC[C/T]AGTGGCATGTCTCCCAGATGTGGTA
Phenotype
MIM: 117700 MIM: 606118
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CP PubMed Links

Gene Details

Gene
CP
Gene Name
ceruloplasmin (ferroxidase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change 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
Gene
HPS3
Gene Name
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308258.1 3666 Missense Mutation CCA,CTA P621L NP_001295187.1
NM_032383.4 3666 Missense Mutation CCA,CTA P786L NP_115759.2
XM_005247834.3 3666 UTR 3 XP_005247891.1
XM_017007323.1 3666 Missense Mutation CCA,CTA P786L XP_016862812.1

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