Product Details

SNP ID
rs199671418
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTCCAGCACCGCGCGGGAGATG[A/T]CCGGCTCCAGCTCCTGCAGGAGGAT
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_001085347.2 803 Missense Mutation GAC,GTC D230V NP_001078816.1
NM_001134430.2 803 Intron NP_001127902.1
NM_001134431.2 803 UTR 3 NP_001127903.1
NM_001252018.1 803 Missense Mutation GAC,GTC D68V NP_001238947.1
NM_001252021.1 803 Missense Mutation GAC,GTC D68V NP_001238950.1
NM_001252023.1 803 Intron NP_001238952.1
NM_130459.3 803 UTR 3 NP_569726.2
XM_011518554.1 803 Missense Mutation GAC,GTC D229V 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_001317037.1 803 Intron NP_001303966.1
NM_144965.2 803 Intron NP_659402.1
XM_005251733.1 803 Intron XP_005251790.1
XM_005251734.1 803 Intron XP_005251791.1
XM_006716970.1 803 Intron XP_006717033.1
XM_006716971.1 803 Intron XP_006717034.1
XM_011518283.1 803 Intron XP_011516585.1
XM_011518284.1 803 Intron XP_011516586.1
XM_011518285.1 803 Intron XP_011516587.1
XM_011518288.1 803 Intron XP_011516590.1
XM_011518289.2 803 Intron XP_011516591.1
XM_011518290.1 803 Intron XP_011516592.1
XM_011518291.1 803 Intron XP_011516593.1
XM_011518292.1 803 Intron XP_011516594.1
XM_011518293.1 803 Intron XP_011516595.1
XM_011518294.2 803 Intron XP_011516596.1
XM_011518295.1 803 Intron XP_011516597.1
XM_011518297.1 803 Intron XP_011516599.1
XM_011518298.2 803 Intron XP_011516600.1

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