Product Details

SNP ID
rs200943472
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23347596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGATGCCCCGGCGGCCAAATCG[A/G]TCCACGGTGACCCCCAGGAAGACAC
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 1584 Silent Mutation GAC,GAT D142D NP_001275979.1
NM_016609.4 1584 Silent Mutation GAC,GAT D360D NP_057693.3
NM_020372.3 1584 Silent Mutation GAC,GAT D360D NP_065105.2
XM_005267747.4 1584 Silent Mutation GAC,GAT D360D XP_005267804.1
XM_005267748.4 1584 Intron XP_005267805.1
XM_017021361.1 1584 Silent Mutation GAC,GAT D360D XP_016876850.1
XM_017021362.1 1584 Silent Mutation GAC,GAT D360D XP_016876851.1

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