Product Details

SNP ID

rs3916897

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45351103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGGCAGGGCGGTCGGGCCAGTG[G/T]TGGAGTCAGCAGGTGGTGGGTTGGT

Phenotype

MIM: 126340 MIM: 601334

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ERCC2 PubMed Links

Additional Information

For this assay, SNP(s) [rs3916896] are located under a probe and SNP(s) [rs3916898] 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

ERCC2

Gene Name

ERCC excision repair 2, TFIIH core complex helicase subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000400.3	2838	Intron			NP_000391.1
NM_001130867.1	2838	Intron			NP_001124339.1
XM_011526611.2	2838	UTR 3			XP_011524913.1
XM_017026467.1	2838	UTR 3			XP_016881956.1

Gene

KLC3

Gene Name

kinesin light chain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_177417.2	2838	Intron			NP_803136.2

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