Product Details

SNP ID
rs143878514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732049 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCAGAGAGTCAGAGGAAGAAGGC[A/G]ATTCGGGAGGCCACGGTCTTGCAGC
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 1065 Silent Mutation ATC,ATT I317I NP_001078816.1
NM_001134430.2 1065 UTR 3 NP_001127902.1
NM_001134431.2 1065 UTR 3 NP_001127903.1
NM_001252018.1 1065 Silent Mutation ATC,ATT I155I NP_001238947.1
NM_001252021.1 1065 Silent Mutation ATC,ATT I155I NP_001238950.1
NM_001252023.1 1065 UTR 3 NP_001238952.1
NM_130459.3 1065 UTR 3 NP_569726.2
XM_011518554.1 1065 Silent Mutation ATC,ATT I316I 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 1065 Intron NP_001303966.1
NM_144965.2 1065 Intron NP_659402.1
XM_005251733.1 1065 Intron XP_005251790.1
XM_005251734.1 1065 Intron XP_005251791.1
XM_006716970.1 1065 Intron XP_006717033.1
XM_006716971.1 1065 Intron XP_006717034.1
XM_011518283.1 1065 Intron XP_011516585.1
XM_011518284.1 1065 Intron XP_011516586.1
XM_011518285.1 1065 Intron XP_011516587.1
XM_011518288.1 1065 Intron XP_011516590.1
XM_011518289.2 1065 Intron XP_011516591.1
XM_011518290.1 1065 Intron XP_011516592.1
XM_011518291.1 1065 Intron XP_011516593.1
XM_011518292.1 1065 Intron XP_011516594.1
XM_011518293.1 1065 Intron XP_011516595.1
XM_011518294.2 1065 Intron XP_011516596.1
XM_011518295.1 1065 Intron XP_011516597.1
XM_011518297.1 1065 Intron XP_011516599.1
XM_011518298.2 1065 Intron XP_011516600.1

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