Product Details

SNP ID
rs147008163
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:20368814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACTTACCAGCTGCATACTGGGT[C/G]TCTCCCATAGCTTAACATCTCTGTC
Phenotype
MIM: 601686
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TEP1 PubMed Links

Gene Details

Gene
TEP1
Gene Name
telomerase associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319035.1 6270 Missense Mutation ACA,AGA T2474R NP_001305964.1
NM_007110.4 6270 Missense Mutation ACA,AGA T2582R NP_009041.2
XM_005268027.4 6270 Missense Mutation ACA,AGA T2582R XP_005268084.1
XM_011537110.2 6270 Missense Mutation ACA,AGA T2059R XP_011535412.1

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