Product Details

SNP ID
rs201626166
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39670126 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCCAGATCTTGCCAGCTTTCAG[C/T]GGGCCCTGGACCACATCACCACGCT
Phenotype
MIM: 611801 MIM: 171190 MIM: 607048 MIM: 604488
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PGAP3 PubMed Links

Gene Details

Gene
PGAP3
Gene Name
post-GPI attachment to proteins 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291726.1 717 Intron NP_001278655.1
NM_001291728.1 717 Intron NP_001278657.1
NM_001291730.1 717 Intron NP_001278659.1
NM_001291732.1 717 Intron NP_001278661.1
NM_001291733.1 717 Intron NP_001278662.1
NM_033419.4 717 Intron NP_219487.3
XM_011525480.2 717 Intron XP_011523782.1
XM_011525481.2 717 Intron XP_011523783.1
Gene
PNMT
Gene Name
phenylethanolamine N-methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002686.4 717 Missense Mutation CGG,TGG R196W NP_002677.1
XM_011524909.2 717 Missense Mutation CGG,TGG R98W XP_011523211.1
Gene
STARD3
Gene Name
StAR related lipid transfer domain containing 3
There are no transcripts associated with this gene.

Gene
TCAP
Gene Name
titin-cap
There are no transcripts associated with this gene.

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