Product Details

SNP ID
rs138754133
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23347197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAAGGACAGAGAAAGTGGTGATG[A/G]CAGCCTCGTTCAGATCTGCAGAAGC
Phenotype
MIM: 609906 MIM: 611461
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EFS PubMed Links

Gene Details

Gene
EFS
Gene Name
embryonal Fyn-associated substrate
There are no transcripts associated with this gene.

Gene
SLC22A17
Gene Name
solute carrier family 22 member 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289050.1 1682 Missense Mutation GCC,GTC A175V NP_001275979.1
NM_016609.4 1682 Missense Mutation GCC,GTC A393V NP_057693.3
NM_020372.3 1682 Missense Mutation GCC,GTC A411V NP_065105.2
XM_005267747.4 1682 Missense Mutation GCC,GTC A411V XP_005267804.1
XM_005267748.4 1682 Missense Mutation GCC,GTC A285V XP_005267805.1
XM_017021361.1 1682 Missense Mutation GCC,GTC A411V XP_016876850.1
XM_017021362.1 1682 Missense Mutation GCC,GTC A393V XP_016876851.1

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