Product Details

SNP ID
rs200121725
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149167069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTCCTTCATTTGACATAGCTTC[C/T]ATTATTCCGTTCTTGGAGCCACTTT
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 2740 Intron NP_000087.1
XM_006713499.2 2740 Intron XP_006713562.1
XM_006713500.3 2740 Intron XP_006713563.1
XM_006713501.2 2740 Intron XP_006713564.1
XM_011512435.1 2740 Intron XP_011510737.1
XM_017005734.1 2740 Intron XP_016861223.1
XM_017005735.1 2740 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 2740 Silent Mutation TCC,TCT S710S NP_001295187.1
NM_032383.4 2740 Silent Mutation TCC,TCT S875S NP_115759.2
XM_005247834.3 2740 Intron XP_005247891.1
XM_017007323.1 2740 Silent Mutation TCC,TCT S875S XP_016862812.1

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