Product Details

SNP ID
rs148683690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6753564 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTCACAGCTCTCGTCCAGCGGCC[C/G]CGCGACTTCCTCGCCCTCCAGTAGG
Phenotype
MIM: 604721 MIM: 604504
Polymorphism
C/G, Transversion 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 1333 Missense Mutation CGG,GGG R488G NP_005481.2
XM_005259467.1 1333 Missense Mutation CGG,GGG R517G XP_005259524.1
XM_005259472.2 1333 Missense Mutation CGG,GGG R395G XP_005259529.1
XM_006722602.1 1333 Missense Mutation CGG,GGG R397G XP_006722665.1
XM_011527608.2 1333 Missense Mutation CGG,GGG R422G XP_011525910.1
XM_011527609.2 1333 Missense Mutation CGG,GGG R422G XP_011525911.1
XM_017026123.1 1333 Intron XP_016881612.1
XM_017026124.1 1333 Intron XP_016881613.1
Gene
TRIP10
Gene Name
thyroid hormone receptor interactor 10
There are no transcripts associated with this gene.

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