Product Details

SNP ID
rs116098615
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23357426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGTGCTCTCAGAGGGGCAGAGG[C/T]TGCCAGCCGGCCCAGGGTGTCCCCA
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 1587 Missense Mutation ACC,GCC T327A NP_001264103.1
NM_005864.3 1587 Missense Mutation ACC,GCC T496A NP_005855.1
NM_032459.2 1587 Missense Mutation ACC,GCC T403A NP_115835.1
XM_005267256.1 1587 Missense Mutation ACC,GCC T466A XP_005267313.1
Gene
SLC22A17
Gene Name
solute carrier family 22 member 17
There are no transcripts associated with this gene.

View Full Product Details