Product Details

SNP ID
rs200540250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732214 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCCGGACGTGGTGCCGCTGGAG[C/T]GGGAGGAAGGGCACCACTGCGTCTA
Phenotype
MIM: 604722 MIM: 608052
Polymorphism
C/T, 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_001085347.2 900 Silent Mutation CCA,CCG P262P NP_001078816.1
NM_001134430.2 900 Missense Mutation ACT,GCT T220A NP_001127902.1
NM_001134431.2 900 UTR 3 NP_001127903.1
NM_001252018.1 900 Silent Mutation CCA,CCG P100P NP_001238947.1
NM_001252021.1 900 Silent Mutation CCA,CCG P100P NP_001238950.1
NM_001252023.1 900 Missense Mutation ACT,GCT T58A NP_001238952.1
NM_130459.3 900 UTR 3 NP_569726.2
XM_011518554.1 900 Silent Mutation CCA,CCG P261P 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_001317037.1 900 Intron NP_001303966.1
NM_144965.2 900 Intron NP_659402.1
XM_005251733.1 900 Intron XP_005251790.1
XM_005251734.1 900 Intron XP_005251791.1
XM_006716970.1 900 Intron XP_006717033.1
XM_006716971.1 900 Intron XP_006717034.1
XM_011518283.1 900 Intron XP_011516585.1
XM_011518284.1 900 Intron XP_011516586.1
XM_011518285.1 900 Intron XP_011516587.1
XM_011518288.1 900 Intron XP_011516590.1
XM_011518289.2 900 Intron XP_011516591.1
XM_011518290.1 900 Intron XP_011516592.1
XM_011518291.1 900 Intron XP_011516593.1
XM_011518292.1 900 Intron XP_011516594.1
XM_011518293.1 900 Intron XP_011516595.1
XM_011518294.2 900 Intron XP_011516596.1
XM_011518295.1 900 Intron XP_011516597.1
XM_011518297.1 900 Intron XP_011516599.1
XM_011518298.2 900 Intron XP_011516600.1

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