Product Details

SNP ID
rs80214638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:24982467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTCTACCCATTCTTCCTTTGAAC[A/G]GGAAGAGAAACCAAGTCAAACTAGC
Phenotype
MIM: 611025 MIM: 611260
Polymorphism
A/G, 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 1107 UTR 3 NP_001257312.1
NM_145010.3 1107 UTR 3 NP_659447.1
XM_006717389.1 1107 UTR 3 XP_006717452.1
XM_006717390.1 1107 UTR 3 XP_006717453.1
XM_011519348.1 1107 UTR 3 XP_011517650.1
XM_017015830.1 1107 UTR 3 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 1107 Intron NP_079114.3
XM_005252597.2 1107 Intron XP_005252654.1
XM_017016665.1 1107 Intron XP_016872154.1

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