Product Details

SNP ID
rs114319840
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:37067297 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGATGGAGTCGAGTGGAGAGGTA[C/T]TCATCATGTTAATCCCAAACAAGAG
Phenotype
MIM: 605938 MIM: 602259
Polymorphism
C/T, Transition 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_001320480.1 420 Missense Mutation AAT,AGT N80S NP_001307409.1
NM_016430.3 420 Missense Mutation AAT,AGT N54S NP_057514.2
NM_153681.2 420 Missense Mutation AAT,AGT N104S NP_710148.1
NM_153682.2 420 Missense Mutation AAT,AGT N80S NP_710149.1
XM_005260990.4 420 Intron XP_005261047.1
XM_011529596.2 420 Missense Mutation AAT,AGT N80S XP_011527898.1
XM_017028364.1 420 Missense Mutation AAT,AGT N80S XP_016883853.1
XM_017028365.1 420 Missense Mutation AAT,AGT N54S XP_016883854.1
Gene
TTC3
Gene Name
tetratricopeptide repeat domain 3
There are no transcripts associated with this gene.

View Full Product Details