Product Details

SNP ID
rs199635046
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149162857 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGCAGCCTCCTGACACCACACC[A/G]TTGCGAACATCGGAGGATCTGGTAA
Phenotype
MIM: 117700 MIM: 606118
Polymorphism
A/G, 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 3563 Intron NP_000087.1
XM_006713499.2 3563 UTR 3 XP_006713562.1
XM_006713500.3 3563 Intron XP_006713563.1
XM_006713501.2 3563 Intron XP_006713564.1
XM_011512435.1 3563 UTR 3 XP_011510737.1
XM_017005734.1 3563 Intron XP_016861223.1
XM_017005735.1 3563 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 3563 Silent Mutation CCA,CCG P655P NP_001295187.1
NM_032383.4 3563 Silent Mutation CCA,CCG P820P NP_115759.2
XM_005247834.3 3563 Intron XP_005247891.1
XM_017007323.1 3563 Silent Mutation CCA,CCG P820P XP_016862812.1

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