Product Details

SNP ID
rs114990094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732207 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCACGCAGTGCCGGACGTGGTGCC[A/G]CTGGAGCGGGAGGAAGGGCACCACT
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_001085347.2 907 Silent Mutation AGG,GGG R265G NP_001078816.1
NM_001134430.2 907 Missense Mutation GAG,GGG E222G NP_001127902.1
NM_001134431.2 907 UTR 3 NP_001127903.1
NM_001252018.1 907 Silent Mutation AGG,GGG R103G NP_001238947.1
NM_001252021.1 907 Silent Mutation AGG,GGG R103G NP_001238950.1
NM_001252023.1 907 Missense Mutation GAG,GGG E60G NP_001238952.1
NM_130459.3 907 UTR 3 NP_569726.2
XM_011518554.1 907 Missense Mutation AGG,GGG R264G 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_001317037.1 907 Intron NP_001303966.1
NM_144965.2 907 Intron NP_659402.1
XM_005251733.1 907 Intron XP_005251790.1
XM_005251734.1 907 Intron XP_005251791.1
XM_006716970.1 907 Intron XP_006717033.1
XM_006716971.1 907 Intron XP_006717034.1
XM_011518283.1 907 Intron XP_011516585.1
XM_011518284.1 907 Intron XP_011516586.1
XM_011518285.1 907 Intron XP_011516587.1
XM_011518288.1 907 Intron XP_011516590.1
XM_011518289.2 907 Intron XP_011516591.1
XM_011518290.1 907 Intron XP_011516592.1
XM_011518291.1 907 Intron XP_011516593.1
XM_011518292.1 907 Intron XP_011516594.1
XM_011518293.1 907 Intron XP_011516595.1
XM_011518294.2 907 Intron XP_011516596.1
XM_011518295.1 907 Intron XP_011516597.1
XM_011518297.1 907 Intron XP_011516599.1
XM_011518298.2 907 Intron XP_011516600.1

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