Product Details

SNP ID
rs536262
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732512 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGAGACCCCGGGAGAGCCTGGC[C/T]CCTGGGTGTGGGGTGAAGCTGCCCG
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 1545 Intron NP_001078816.1
NM_001134430.2 1545 Intron NP_001127902.1
NM_001134431.2 1545 UTR 3 NP_001127903.1
NM_001252018.1 1545 Intron NP_001238947.1
NM_001252021.1 1545 Intron NP_001238950.1
NM_001252023.1 1545 Intron NP_001238952.1
NM_130459.3 1545 UTR 3 NP_569726.2
XM_011518554.1 1545 Intron 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 1545 Intron NP_001303966.1
NM_144965.2 1545 Intron NP_659402.1
XM_005251733.1 1545 Intron XP_005251790.1
XM_005251734.1 1545 Intron XP_005251791.1
XM_006716970.1 1545 Intron XP_006717033.1
XM_006716971.1 1545 Intron XP_006717034.1
XM_011518283.1 1545 Intron XP_011516585.1
XM_011518284.1 1545 Intron XP_011516586.1
XM_011518285.1 1545 Intron XP_011516587.1
XM_011518288.1 1545 Intron XP_011516590.1
XM_011518289.2 1545 Intron XP_011516591.1
XM_011518290.1 1545 Intron XP_011516592.1
XM_011518291.1 1545 Intron XP_011516593.1
XM_011518292.1 1545 Intron XP_011516594.1
XM_011518293.1 1545 Intron XP_011516595.1
XM_011518294.2 1545 Intron XP_011516596.1
XM_011518295.1 1545 Intron XP_011516597.1
XM_011518297.1 1545 Intron XP_011516599.1
XM_011518298.2 1545 Intron XP_011516600.1

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