Product Details

SNP ID
rs150719673
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:124825342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCATCAGAACTTCTGATGCTGGAA[C/T]CTGGAAGAATTTGTCCTTAAAAATG
Phenotype
MIM: 606478
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
POT1 PubMed Links

Gene Details

Gene
POT1
Gene Name
protection of telomeres 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042594.1 2172 Missense Mutation ATT,GTT I437V NP_001036059.1
NM_015450.2 2172 Missense Mutation ATT,GTT I568V NP_056265.2
XM_006715917.3 2172 Missense Mutation ATT,GTT I568V XP_006715980.1
XM_011516006.1 2172 Missense Mutation ATT,GTT I437V XP_011514308.1
XM_011516007.1 2172 Missense Mutation ATT,GTT I437V XP_011514309.1
XM_017011941.1 2172 Intron XP_016867430.1
XM_017011942.1 2172 Missense Mutation ATT,GTT I437V XP_016867431.1

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