Product Details

SNP ID
rs138184769
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149162709 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAAGGTGCTTTGTGCTAAGGATG[A/G]AGATACAATTCCTCAGCTCTTGGTA
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 3711 Intron NP_000087.1
XM_006713499.2 3711 UTR 3 XP_006713562.1
XM_006713500.3 3711 Intron XP_006713563.1
XM_006713501.2 3711 Intron XP_006713564.1
XM_011512435.1 3711 UTR 3 XP_011510737.1
XM_017005734.1 3711 Intron XP_016861223.1
XM_017005735.1 3711 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 3711 Missense Mutation GAA,GGA E606G NP_001295187.1
NM_032383.4 3711 Missense Mutation GAA,GGA E771G NP_115759.2
XM_005247834.3 3711 UTR 3 XP_005247891.1
XM_017007323.1 3711 Missense Mutation GAA,GGA E771G XP_016862812.1

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