Product Details

SNP ID
rs75294770
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:55334001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTTATTCTACATCATTTTTTAC[C/G]TGTAGGGTAAGTGTGGCAATAATCC
Phenotype
MIM: 604122
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PIGB PubMed Links

Gene Details

Gene
PIGB
Gene Name
phosphatidylinositol glycan anchor biosynthesis class B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004855.4 652 Missense Mutation CCT,CGT P263R NP_004846.4
XM_005254795.4 652 Missense Mutation CCT,CGT P102R XP_005254852.1
XM_011522235.2 652 Missense Mutation CCT,CGT P263R XP_011520537.1
XM_011522236.2 652 Missense Mutation CCT,CGT P228R XP_011520538.1
XM_011522237.2 652 Missense Mutation CCT,CGT P130R XP_011520539.1
XM_017022730.1 652 Missense Mutation CCT,CGT P130R XP_016878219.1
XM_017022731.1 652 Missense Mutation CCT,CGT P130R XP_016878220.1
XM_017022732.1 652 Missense Mutation CCT,CGT P102R XP_016878221.1

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