Product Details

SNP ID

rs4647133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:60886881 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATATTTACCTTGATGTTTACAATAA[A/T]CAACAGAAATGCCTCCAAGTAGGTA

Phenotype

MIM: 609412

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ERCC8 PubMed Links

Gene Details

Gene

ERCC8

Gene Name

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000082.3		Intron			NP_000073.1
NM_001007233.2		Intron			NP_001007234.1
NM_001007234.2		Intron			NP_001007235.1
NM_001290285.1		Intron			NP_001277214.1

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