Product Details

SNP ID

rs17246404

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:124822607 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTGTATCCTGAGCACATCATCAACA[C/T]GGAAACACACCTGTTCAACTGTAGG

Phenotype

MIM: 606478

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

POT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs76436625] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	3730	UTR 3			NP_001036059.1
NM_015450.2	3730	UTR 3			NP_056265.2
XM_006715917.3	3730	UTR 3			XP_006715980.1
XM_011516006.1	3730	UTR 3			XP_011514308.1
XM_011516007.1	3730	UTR 3			XP_011514309.1
XM_017011941.1	3730	Intron			XP_016867430.1
XM_017011942.1	3730	UTR 3			XP_016867431.1

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