Product Details

SNP ID
rs199668522
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732223 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGGTGCCGCTGGAGCGGGAGGAA[G/T]GGCACCACTGCGTCTAGGAGGCGCT
Phenotype
MIM: 604722 MIM: 608052
Polymorphism
G/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_001085347.2 891 Silent Mutation CCA,CCC P259P NP_001078816.1
NM_001134430.2 891 Missense Mutation ATT,CTT I217L NP_001127902.1
NM_001134431.2 891 UTR 3 NP_001127903.1
NM_001252018.1 891 Silent Mutation CCA,CCC P97P NP_001238947.1
NM_001252021.1 891 Silent Mutation CCA,CCC P97P NP_001238950.1
NM_001252023.1 891 Missense Mutation ATT,CTT I55L NP_001238952.1
NM_130459.3 891 UTR 3 NP_569726.2
XM_011518554.1 891 Silent Mutation CCA,CCC P258P XP_011516856.1
Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317037.1 891 Intron NP_001303966.1
NM_144965.2 891 Intron NP_659402.1
XM_005251733.1 891 Intron XP_005251790.1
XM_005251734.1 891 Intron XP_005251791.1
XM_006716970.1 891 Intron XP_006717033.1
XM_006716971.1 891 Intron XP_006717034.1
XM_011518283.1 891 Intron XP_011516585.1
XM_011518284.1 891 Intron XP_011516586.1
XM_011518285.1 891 Intron XP_011516587.1
XM_011518288.1 891 Intron XP_011516590.1
XM_011518289.2 891 Intron XP_011516591.1
XM_011518290.1 891 Intron XP_011516592.1
XM_011518291.1 891 Intron XP_011516593.1
XM_011518292.1 891 Intron XP_011516594.1
XM_011518293.1 891 Intron XP_011516595.1
XM_011518294.2 891 Intron XP_011516596.1
XM_011518295.1 891 Intron XP_011516597.1
XM_011518297.1 891 Intron XP_011516599.1
XM_011518298.2 891 Intron XP_011516600.1

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