Product Details

SNP ID
rs142399331
Assay Type
Functionally Tested
NCBI dbSNP Submissions
12
Location
Chr.14:23357581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTGCAGGGCTGAGTAGTGGCTC[C/T]GGCATTGCCCAGCATAGAAGTACAG
Phenotype
MIM: 609906 MIM: 611461
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EFS PubMed Links

Gene Details

Gene
EFS
Gene Name
embryonal Fyn-associated substrate
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277174.1 1432 Missense Mutation CAG,CGG Q275R NP_001264103.1
NM_005864.3 1432 Missense Mutation CAG,CGG Q444R NP_005855.1
NM_032459.2 1432 Missense Mutation CAG,CGG Q351R NP_115835.1
XM_005267256.1 1432 Missense Mutation CAG,CGG Q414R XP_005267313.1
Gene
SLC22A17
Gene Name
solute carrier family 22 member 17
There are no transcripts associated with this gene.

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