Product Details

SNP ID
rs142431257
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:37065611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTGGTGTAAAGTTCTTTGGCTG[C/G]AAGAAAGAACATTTGGTTTACTTCA
Phenotype
MIM: 605938 MIM: 602259
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LOC105372795 PubMed Links

Gene Details

Gene
LOC105372795
Gene Name
uncharacterized LOC105372795
There are no transcripts associated with this gene.

Gene
PIGP
Gene Name
phosphatidylinositol glycan anchor biosynthesis class P
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320480.1 557 Missense Mutation CCA,GCA P126A NP_001307409.1
NM_016430.3 557 Missense Mutation CCA,GCA P100A NP_057514.2
NM_153681.2 557 Missense Mutation CCA,GCA P150A NP_710148.1
NM_153682.2 557 Missense Mutation CCA,GCA P126A NP_710149.1
XM_005260990.4 557 Intron XP_005261047.1
XM_011529596.2 557 Missense Mutation CCA,GCA P126A XP_011527898.1
XM_017028364.1 557 Missense Mutation CCA,GCA P126A XP_016883853.1
XM_017028365.1 557 Missense Mutation CCA,GCA P100A XP_016883854.1
Gene
TTC3
Gene Name
tetratricopeptide repeat domain 3
There are no transcripts associated with this gene.

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