Product Details

SNP ID: rs17147565
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:124823983 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AATATTAGATTACATCTTCTGCAAC[G/T]GTGGTGTCAAAAATCTGATAGCAAA
Phenotype: MIM: 606478
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: POT1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042594.1	2354	Silent Mutation	ACA,ACC	T497T	NP_001036059.1
NM_015450.2	2354	Silent Mutation	ACA,ACC	T628T	NP_056265.2
XM_006715917.3	2354	Silent Mutation	ACA,ACC	T628T	XP_006715980.1
XM_011516006.1	2354	Silent Mutation	ACA,ACC	T497T	XP_011514308.1
XM_011516007.1	2354	Silent Mutation	ACA,ACC	T497T	XP_011514309.1
XM_017011941.1	2354	Intron			XP_016867430.1
XM_017011942.1	2354	Silent Mutation	ACA,ACC	T497T	XP_016867431.1