Product Details

SNP ID
rs201909752
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:24984855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTGGTATAGAATCTATAAAGAC[C/T]GAGAGGGACTGGAATTCTTTATGCA
Phenotype
MIM: 611025 MIM: 611260
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ENKUR PubMed Links

Gene Details

Gene
ENKUR
Gene Name
enkurin, TRPC channel interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270383.1 684 Silent Mutation TCA,TCG S153S NP_001257312.1
NM_145010.3 684 Silent Mutation TCA,TCG S215S NP_659447.1
XM_006717389.1 684 Silent Mutation TCA,TCG S215S XP_006717452.1
XM_006717390.1 684 Silent Mutation TCA,TCG S119S XP_006717453.1
XM_011519348.1 684 Silent Mutation TCA,TCG S215S XP_011517650.1
XM_017015830.1 684 Silent Mutation TCA,TCG S119S XP_016871319.1
Gene
THNSL1
Gene Name
threonine synthase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024838.4 684 Intron NP_079114.3
XM_005252597.2 684 Intron XP_005252654.1
XM_017016665.1 684 Intron XP_016872154.1

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