Product Details

SNP ID
rs538066
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127732678 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCCAATGCCACCTGGTTGATCTGCT[C/T]GCCACCCGTGTTGCTAAAACCATGG
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_001085347.2 721 Missense Mutation NP_001078816.1
NM_001134430.2 721 Intron NP_001127902.1
NM_001134431.2 721 UTR 3 NP_001127903.1
NM_001252018.1 721 Missense Mutation NP_001238947.1
NM_001252021.1 721 Missense Mutation NP_001238950.1
NM_001252023.1 721 Intron NP_001238952.1
NM_130459.3 721 UTR 3 NP_569726.2
XM_011518554.1 721 Missense Mutation XP_011516856.1
Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
There are no transcripts associated with this gene.

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