Product Details

SNP ID
rs201696759
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCAGAGGAAGAAGGCGATTCGG[A/G]AGGCCACGGTCTTGCAGCCGTTGGA
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 1058 Missense Mutation TCC,TTC S315F NP_001078816.1
NM_001134430.2 1058 UTR 3 NP_001127902.1
NM_001134431.2 1058 UTR 3 NP_001127903.1
NM_001252018.1 1058 Missense Mutation TCC,TTC S153F NP_001238947.1
NM_001252021.1 1058 Missense Mutation TCC,TTC S153F NP_001238950.1
NM_001252023.1 1058 UTR 3 NP_001238952.1
NM_130459.3 1058 UTR 3 NP_569726.2
XM_011518554.1 1058 Missense Mutation TCC,TTC S314F 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 1058 Intron NP_001303966.1
NM_144965.2 1058 Intron NP_659402.1
XM_005251733.1 1058 Intron XP_005251790.1
XM_005251734.1 1058 Intron XP_005251791.1
XM_006716970.1 1058 Intron XP_006717033.1
XM_006716971.1 1058 Intron XP_006717034.1
XM_011518283.1 1058 Intron XP_011516585.1
XM_011518284.1 1058 Intron XP_011516586.1
XM_011518285.1 1058 Intron XP_011516587.1
XM_011518288.1 1058 Intron XP_011516590.1
XM_011518289.2 1058 Intron XP_011516591.1
XM_011518290.1 1058 Intron XP_011516592.1
XM_011518291.1 1058 Intron XP_011516593.1
XM_011518292.1 1058 Intron XP_011516594.1
XM_011518293.1 1058 Intron XP_011516595.1
XM_011518294.2 1058 Intron XP_011516596.1
XM_011518295.1 1058 Intron XP_011516597.1
XM_011518297.1 1058 Intron XP_011516599.1
XM_011518298.2 1058 Intron XP_011516600.1

View Full Product Details