Product Details

SNP ID
rs146570408
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:37065680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCTGGAATGGCCTCCTCTTGGT[A/G]TTTCTTCTGCTGTTGATTTTTTGCA
Phenotype
MIM: 605938 MIM: 602259
Polymorphism
A/G, 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_001320480.1 488 Missense Mutation CAC,TAC H103Y NP_001307409.1
NM_016430.3 488 Missense Mutation CAC,TAC H77Y NP_057514.2
NM_153681.2 488 Missense Mutation CAC,TAC H127Y NP_710148.1
NM_153682.2 488 Missense Mutation CAC,TAC H103Y NP_710149.1
XM_005260990.4 488 Intron XP_005261047.1
XM_011529596.2 488 Missense Mutation CAC,TAC H103Y XP_011527898.1
XM_017028364.1 488 Missense Mutation CAC,TAC H103Y XP_016883853.1
XM_017028365.1 488 Missense Mutation CAC,TAC H77Y XP_016883854.1
Gene
TTC3
Gene Name
tetratricopeptide repeat domain 3
There are no transcripts associated with this gene.

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