Product Details

SNP ID
rs2981470
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149163990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTTTCTTATGAAATTGCATATT[A/C]CAATATAGTGTAAGATTAAATTTGC
Phenotype
MIM: 117700 MIM: 606118
Polymorphism
A/C, Transversion 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 Intron NP_000087.1
XM_006713499.2 Intron XP_006713562.1
XM_006713500.3 Intron XP_006713563.1
XM_006713501.2 Intron XP_006713564.1
XM_011512435.1 Intron XP_011510737.1
XM_017005734.1 Intron XP_016861223.1
XM_017005735.1 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 Intron NP_001295187.1
NM_032383.4 Intron NP_115759.2
XM_005247834.3 Intron XP_005247891.1
XM_017007323.1 Intron XP_016862812.1

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