Product Details

SNP ID
rs115177998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:24984823 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTCTTCTTCCAGCCTCTGCTTG[C/T]GGATCTTCTTTGGTATAGAATCTAT
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_001270383.1 716 Missense Mutation CAC,CGC H164R NP_001257312.1
NM_145010.3 716 Missense Mutation CAC,CGC H226R NP_659447.1
XM_006717389.1 716 Missense Mutation CAC,CGC H226R XP_006717452.1
XM_006717390.1 716 Missense Mutation CAC,CGC H130R XP_006717453.1
XM_011519348.1 716 Missense Mutation CAC,CGC H226R XP_011517650.1
XM_017015830.1 716 Missense Mutation CAC,CGC H130R 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_024838.4 716 Intron NP_079114.3
XM_005252597.2 716 Intron XP_005252654.1
XM_017016665.1 716 Intron XP_016872154.1

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