Product Details

SNP ID
rs201342330
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732588 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTGCGGGTTGTCCAGCACCGCGC[A/G]GGAGATGACCGGCTCCAGCTCCTGC
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_001085347.2 811 Missense Mutation NP_001078816.1
NM_001134430.2 811 Intron NP_001127902.1
NM_001134431.2 811 UTR 3 NP_001127903.1
NM_001252018.1 811 Missense Mutation NP_001238947.1
NM_001252021.1 811 Missense Mutation NP_001238950.1
NM_001252023.1 811 Intron NP_001238952.1
NM_130459.3 811 UTR 3 NP_569726.2
XM_011518554.1 811 Missense Mutation 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_001317037.1 811 Intron NP_001303966.1
NM_144965.2 811 Intron NP_659402.1
XM_005251733.1 811 Intron XP_005251790.1
XM_005251734.1 811 Intron XP_005251791.1
XM_006716970.1 811 Intron XP_006717033.1
XM_006716971.1 811 Intron XP_006717034.1
XM_011518283.1 811 Intron XP_011516585.1
XM_011518284.1 811 Intron XP_011516586.1
XM_011518285.1 811 Intron XP_011516587.1
XM_011518288.1 811 Intron XP_011516590.1
XM_011518289.2 811 Intron XP_011516591.1
XM_011518290.1 811 Intron XP_011516592.1
XM_011518291.1 811 Intron XP_011516593.1
XM_011518292.1 811 Intron XP_011516594.1
XM_011518293.1 811 Intron XP_011516595.1
XM_011518294.2 811 Intron XP_011516596.1
XM_011518295.1 811 Intron XP_011516597.1
XM_011518297.1 811 Intron XP_011516599.1
XM_011518298.2 811 Intron XP_011516600.1

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