Product Details

SNP ID
rs139352371
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6754698 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGATGAGACTCCCATGTTGCCCC[A/G]CTGATCTCTGGTCACTCCCAGGAGG
Phenotype
MIM: 604721 MIM: 604504
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SH2D3A PubMed Links

Gene Details

Gene
SH2D3A
Gene Name
SH2 domain containing 3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005490.2 776 Missense Mutation CGG,TGG R339W NP_005481.2
XM_005259467.1 776 Missense Mutation CGG,TGG R339W XP_005259524.1
XM_005259472.2 776 Missense Mutation CGG,TGG R217W XP_005259529.1
XM_006722602.1 776 Missense Mutation GCG,GTG A211V XP_006722665.1
XM_011527608.2 776 Missense Mutation CGG,TGG R244W XP_011525910.1
XM_011527609.2 776 Missense Mutation CGG,TGG R244W XP_011525911.1
XM_017026123.1 776 Missense Mutation CGG,TGG R339W XP_016881612.1
XM_017026124.1 776 Missense Mutation GCG,GTG A211V XP_016881613.1
Gene
TRIP10
Gene Name
thyroid hormone receptor interactor 10
There are no transcripts associated with this gene.

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