Product Details

SNP ID
rs201869689
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGGATCTCCTCGCGGTCCCGCC[A/G]GCTGCGCCACGCCTCCAATGCCACC
Phenotype
MIM: 604722 MIM: 608052
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SH2D3C PubMed Links

Gene Details

Gene
SH2D3C
Gene Name
SH2 domain containing 3C
There are no transcripts associated with this gene.

Gene
TOR2A
Gene Name
torsin family 2 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085347.2 760 Missense Mutation CGG,TGG R216W NP_001078816.1
NM_001134430.2 760 Intron NP_001127902.1
NM_001134431.2 760 UTR 3 NP_001127903.1
NM_001252018.1 760 Missense Mutation CGG,TGG R54W NP_001238947.1
NM_001252021.1 760 Missense Mutation CGG,TGG R54W NP_001238950.1
NM_001252023.1 760 Intron NP_001238952.1
NM_130459.3 760 UTR 3 NP_569726.2
XM_011518554.1 760 Missense Mutation CGG,TGG R215W XP_011516856.1
Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
There are no transcripts associated with this gene.

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