Product Details

SNP ID
rs144393381
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23357521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCACGAAAAGGCGCGGGGGCTGA[G/T]TAGCCTGGGTACTGGACATCAGGGC
Phenotype
MIM: 609906 MIM: 611461
Polymorphism
G/T, Transversion 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 1492 Missense Mutation AAT,ACT N295T NP_001264103.1
NM_005864.3 1492 Missense Mutation AAT,ACT N464T NP_005855.1
NM_032459.2 1492 Missense Mutation AAT,ACT N371T NP_115835.1
XM_005267256.1 1492 Missense Mutation AAT,ACT N434T 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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