Product Details

SNP ID
rs200401315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:37065665 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGAAATATCTCTTAAGGCTGGAA[A/T]GGCCTCCTCTTGGTATTTCTTCTGC
Phenotype
MIM: 605938 MIM: 602259
Polymorphism
A/T, 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_001320480.1 503 Missense Mutation ATT,TTT I108F NP_001307409.1
NM_016430.3 503 Missense Mutation ATT,TTT I82F NP_057514.2
NM_153681.2 503 Missense Mutation ATT,TTT I132F NP_710148.1
NM_153682.2 503 Missense Mutation ATT,TTT I108F NP_710149.1
XM_005260990.4 503 Intron XP_005261047.1
XM_011529596.2 503 Missense Mutation ATT,TTT I108F XP_011527898.1
XM_017028364.1 503 Missense Mutation ATT,TTT I108F XP_016883853.1
XM_017028365.1 503 Missense Mutation ATT,TTT I82F XP_016883854.1
Gene
TTC3
Gene Name
tetratricopeptide repeat domain 3
There are no transcripts associated with this gene.

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