Product Details

SNP ID
rs189564272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:69361457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCCAAGTCTCCTTTTCTTCAACC[C/T]CATTAGAGCTGTTCCACTTGCCTTT
Phenotype
MIM: 602027
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TERF2 PubMed Links

Gene Details

Gene
TERF2
Gene Name
telomeric repeat binding factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005652.4 1415 Missense Mutation GAG,GGG E458G NP_005643.2
XM_005256121.3 1415 Missense Mutation GAG,GGG E461G XP_005256178.1
XM_005256122.3 1415 Missense Mutation GAG,GGG E461G XP_005256179.1
XM_005256123.3 1415 Missense Mutation GAG,GGG E458G XP_005256180.1
XM_005256124.3 1415 Missense Mutation GAG,GGG E380G XP_005256181.1
Gene
TMED6
Gene Name
transmembrane p24 trafficking protein 6
There are no transcripts associated with this gene.

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