Product Details

SNP ID
rs139697700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149163922 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTGATTCTTTAGCTGATAAAAA[C/T]TATACAGAAGATCTTTCAAAATTAC
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 2677 Intron NP_000087.1
XM_006713499.2 2677 Intron XP_006713562.1
XM_006713500.3 2677 Intron XP_006713563.1
XM_006713501.2 2677 Intron XP_006713564.1
XM_011512435.1 2677 Intron XP_011510737.1
XM_017005734.1 2677 Intron XP_016861223.1
XM_017005735.1 2677 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 2677 Silent Mutation AAC,AAT N689N NP_001295187.1
NM_032383.4 2677 Silent Mutation AAC,AAT N854N NP_115759.2
XM_005247834.3 2677 Intron XP_005247891.1
XM_017007323.1 2677 Silent Mutation AAC,AAT N854N XP_016862812.1

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