Product Details

SNP ID
rs143682906
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:6754848 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCCACCTGGCAGTCTACCAATA[A/G]CAGGTGAAGGGCGGTGCTCCCAGGA
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_005490.2 725 Silent Mutation CTA,TTA L322L NP_005481.2
XM_005259467.1 725 Silent Mutation CTA,TTA L322L XP_005259524.1
XM_005259472.2 725 Silent Mutation CTA,TTA L200L XP_005259529.1
XM_006722602.1 725 Missense Mutation GCT,GTT A194V XP_006722665.1
XM_011527608.2 725 Silent Mutation CTA,TTA L227L XP_011525910.1
XM_011527609.2 725 Silent Mutation CTA,TTA L227L XP_011525911.1
XM_017026123.1 725 Silent Mutation CTA,TTA L322L XP_016881612.1
XM_017026124.1 725 Missense Mutation GCT,GTT A194V XP_016881613.1
Gene
TRIP10
Gene Name
thyroid hormone receptor interactor 10
There are no transcripts associated with this gene.

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