Product Details

SNP ID

rs187435008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:13922080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGAAGGAGTTGAACACCTCCCTC[A/G]CCGTGTAACAAATGAAATCACAAGC

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	232	Missense Mutation	CAC,CGC	H86R	NP_005227.1
XM_011522424.2	232	Missense Mutation	CAC,CGC	H86R	XP_011520726.1
XM_011522427.1	232	Intron			XP_011520729.1
XM_017023043.1	232	UTR 5			XP_016878532.1

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