Product Details

SNP ID
rs148184955
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4280225 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGGACGCGGAGAGCCGCTTGGA[A/G]CCGGACCCCGCGGGCCCTGGGGACT
Phenotype
MIM: 610481
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SHD PubMed Links

Gene Details

Gene
SHD
Gene Name
Src homology 2 domain containing transforming protein D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020209.3 1625 Silent Mutation GAA,GAG E54E NP_064594.3

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