Product Details

SNP ID

rs201393222

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:95876027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACATGCAGCCGGGCTCGGCCCCT[A/C]CCCCTGGCCGGATGGATCCGTCGGC

Phenotype

MIM: 615667

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ERCC6L2 PubMed Links

Additional Information

For this assay, SNP(s) [rs56108623] are located under a probe and SNP(s) [rs690528] are located under a primer 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

ERCC6L2

Gene Name

ERCC excision repair 6 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010895.2	410	Missense Mutation	ACC,CCC	T8P	NP_001010895.1
NM_020207.4	410	Missense Mutation	ACC,CCC	T8P	NP_064592.2
XM_011518641.2	410	Missense Mutation	ACC,CCC	T8P	XP_011516943.1
XM_011518644.2	410	UTR 5			XP_011516946.1
XM_011518645.2	410	Missense Mutation	ACC,CCC	T8P	XP_011516947.1
XM_011518646.2	410	Missense Mutation	ACC,CCC	T8P	XP_011516948.1
XM_011518647.1	410	Missense Mutation	ACC,CCC	T8P	XP_011516949.1
XM_011518648.2	410	Intron			XP_011516950.1
XM_011518650.2	410	Intron			XP_011516952.1
XM_017014707.1	410	UTR 5			XP_016870196.1

Gene

LINC00476

Gene Name

long intergenic non-protein coding RNA 476

There are no transcripts associated with this gene.

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