Product Details

SNP ID
rs115684297
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:36307814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTCAGTCAGCCCTGGTCCCCAG[C/T]GGCCTCCCAAGGTAAGTTGGCTCAG
Phenotype
MIM: 603809
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SH3D21 PubMed Links

Gene Details

Gene
SH3D21
Gene Name
SH3 domain containing 21
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162530.1 554 Missense Mutation CGG,TGG R161W NP_001156002.1
NM_024676.4 554 Missense Mutation CGG,TGG R50W NP_078952.4
XM_011542153.2 554 Missense Mutation CGG,TGG R161W XP_011540455.1
XM_017002340.1 554 Missense Mutation CGG,TGG R161W XP_016857829.1
XM_017002341.1 554 Missense Mutation CGG,TGG R161W XP_016857830.1
XM_017002342.1 554 Missense Mutation CGG,TGG R161W XP_016857831.1
XM_017002343.1 554 Missense Mutation CGG,TGG R161W XP_016857832.1
XM_017002344.1 554 Missense Mutation CGG,TGG R161W XP_016857833.1
XM_017002345.1 554 Missense Mutation CGG,TGG R161W XP_016857834.1
XM_017002346.1 554 UTR 5 XP_016857835.1
Gene
THRAP3
Gene Name
thyroid hormone receptor associated protein 3
There are no transcripts associated with this gene.

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