Product Details

SNP ID

rs192488568

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:13922048 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATTTAGGAGTATTTTATCAATCA[A/G]CTGAAGATAGAAGGAGTTGAACACC

Phenotype

MIM: 133520

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ERCC4 PubMed Links

Gene Details

Gene

ERCC4

Gene Name

ERCC excision repair 4, endonuclease catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005236.2	200	Silent Mutation	CAA,CAG	Q75Q	NP_005227.1
XM_011522424.2	200	Silent Mutation	CAA,CAG	Q75Q	XP_011520726.1
XM_011522427.1	200	Intron			XP_011520729.1
XM_017023043.1	200	UTR 5			XP_016878532.1

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