Product Details

SNP ID
rs150094874
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4292865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCCCCCCGGGGCCGGTATAGGA[C/T]GTTGCTGTAGAATGCATTTCCTAGG
Phenotype
MIM: 610481 MIM: 614715
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SHD PubMed Links

Gene Details

Gene
SHD
Gene Name
Src homology 2 domain containing transforming protein D
There are no transcripts associated with this gene.

Gene
TMIGD2
Gene Name
transmembrane and immunoglobulin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001169126.1 269 Missense Mutation ATC,GTC I191V NP_001162597.1
NM_001308232.1 269 Missense Mutation ATC,GTC I75V NP_001295161.1
NM_144615.2 269 Missense Mutation ATC,GTC I195V NP_653216.2
XM_017026284.1 269 Intron XP_016881773.1

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