Product Details

SNP ID

rs4647037

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:60945141 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGTGAGCGCCGTTACTAGAAGG[C/G]CTCCAGGATGGAGGCCGACCTGACT

Phenotype

MIM: 609412 MIM: 609653

Polymorphism

C/G, 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

Gene

NDUFAF2

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_174889.4		Intron			NP_777549.1

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