Product Details

SNP ID
rs183762960
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:113165066 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCAAATGCAGACCAGTGTGCCTG[A/C]GGGGTGCTGACCTCTGAGAAGCGTG
Phenotype
MIM: 613713 MIM: 176895
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PCID2 PubMed Links

Gene Details

Gene
PCID2
Gene Name
PCI domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127202.3 526 Intron NP_001120674.1
NM_001127203.3 526 Intron NP_001120675.1
NM_001258213.2 526 Intron NP_001245142.1
NM_001320655.1 526 Intron NP_001307584.1
NM_001320656.1 526 Intron NP_001307585.1
NM_001320657.1 526 Intron NP_001307586.1
NM_001320659.1 526 Intron NP_001307588.1
NM_001320660.1 526 Intron NP_001307589.1
NM_018386.4 526 Intron NP_060856.2
XM_005268325.3 526 Intron XP_005268382.1
XM_017020664.1 526 Intron XP_016876153.1
XM_017020665.1 526 Intron XP_016876154.1
XM_017020666.1 526 Intron XP_016876155.1
XM_017020667.1 526 Intron XP_016876156.1
XM_017020668.1 526 Intron XP_016876157.1
XM_017020669.1 526 Intron XP_016876158.1
XM_017020670.1 526 Intron XP_016876159.1
XM_017020671.1 526 Intron XP_016876160.1
XM_017020672.1 526 Intron XP_016876161.1
Gene
PROZ
Gene Name
protein Z, vitamin K dependent plasma glycoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256134.1 526 Silent Mutation TGA,TGC *195C NP_001243063.1
NM_003891.2 526 Silent Mutation TGA,TGC *173C NP_003882.1
XM_017020812.1 526 Nonsense Mutation TGA,TGC *240C XP_016876301.1
XM_017020813.1 526 Nonsense Mutation TGA,TGC *195C XP_016876302.1

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