Product Details

SNP ID
rs1054533
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16893238 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCCCACCACCCGGCCACTATGTCTC[C/T]GAGGGGCCGGAGTCTGGCCCCATCT
Phenotype
MIM: 608841 MIM: 602779
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CPAMD8 PubMed Links

Gene Details

Gene
CPAMD8
Gene Name
C3 and PZP like, alpha-2-macroglobulin domain containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015692.2 5701 Missense Mutation CAG,CGG Q1890R NP_056507.2
XM_011527917.1 5701 Missense Mutation CAG,CGG Q1878R XP_011526219.1
XM_011527918.1 5701 UTR 3 XP_011526220.1
XM_011527919.1 5701 UTR 3 XP_011526221.1
XM_011527920.2 5701 UTR 3 XP_011526222.1
XM_011527921.2 5701 Intron XP_011526223.1
XM_011527922.1 5701 Intron XP_011526224.1
XM_011527923.1 5701 Intron XP_011526225.1
XM_011527924.2 5701 UTR 3 XP_011526226.1
XM_011527925.1 5701 Missense Mutation CAG,CGG Q1147R XP_011526227.1
XM_017026594.1 5701 Intron XP_016882083.1
Gene
F2RL3
Gene Name
F2R like thrombin/trypsin receptor 3
There are no transcripts associated with this gene.

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