Product Details

SNP ID
rs186889170
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGCCGGCTGCGCCACGCCTCCA[A/T]TGCCACCTGGTTGATCTGCTTGCCA
Phenotype
MIM: 604722 MIM: 608052
Polymorphism
A/T, Transversion 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_001085347.2 742 Missense Mutation ATG,TTG M210L NP_001078816.1
NM_001134430.2 742 Intron NP_001127902.1
NM_001134431.2 742 UTR 3 NP_001127903.1
NM_001252018.1 742 Missense Mutation ATG,TTG M48L NP_001238947.1
NM_001252021.1 742 Missense Mutation ATG,TTG M48L NP_001238950.1
NM_001252023.1 742 Intron NP_001238952.1
NM_130459.3 742 UTR 3 NP_569726.2
XM_011518554.1 742 Missense Mutation ATG,TTG M209L XP_011516856.1
Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
There are no transcripts associated with this gene.

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