Product Details

SNP ID

rs3732557

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:149163886 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGGCTTAATTTATCCATGGGTTCA[C/T]GTCGTAATATCATCTGATTCTTTAG

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	2641	Intron			NP_000087.1
XM_006713499.2	2641	Intron			XP_006713562.1
XM_006713500.3	2641	Intron			XP_006713563.1
XM_006713501.2	2641	Intron			XP_006713564.1
XM_011512435.1	2641	Intron			XP_011510737.1
XM_017005734.1	2641	Intron			XP_016861223.1
XM_017005735.1	2641	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	2641	Silent Mutation	CAC,CAT	H677H	NP_001295187.1
NM_032383.4	2641	Silent Mutation	CAC,CAT	H842H	NP_115759.2
XM_005247834.3	2641	Intron			XP_005247891.1
XM_017007323.1	2641	Silent Mutation	CAC,CAT	H842H	XP_016862812.1

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