Product Details

SNP ID

rs201269482

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:66337059 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTCCTCTTCATTTAAAGTATTGG[C/T]AATAGCATCATTACATGGATTGTCC

Phenotype

MIM: 614183 MIM: 610716

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DIS3L PubMed Links

Additional Information

For this assay, SNP(s) [rs34848112,rs3759786] 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

DIS3L

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

There are no transcripts associated with this gene.

Gene

TIPIN

Gene Name

TIMELESS interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289986.1	1074	Intron			NP_001276915.1
NM_017858.2	1074	Intron			NP_060328.2
XM_005254521.2	1074	Missense Mutation	ACC,GCC	T269A	XP_005254578.1
XM_005254522.4	1074	Missense Mutation	ACC,GCC	T269A	XP_005254579.1
XM_006720594.3	1074	Missense Mutation	ACC,GCC	T269A	XP_006720657.1
XM_011521743.1	1074	Missense Mutation	ACC,GCC	T269A	XP_011520045.1
XM_017022390.1	1074	Missense Mutation	ACC,GCC	T269A	XP_016877879.1
XM_017022391.1	1074	Intron			XP_016877880.1

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