Product Details

SNP ID
rs144602005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:13920274 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTGACGGGCTAGTAGTGTGCGCC[C/T]GCGGGCTCGGCGCGGACCGGCTCCT
Phenotype
MIM: 133520
Polymorphism
C/T, 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 84 Missense Mutation CGC,TGC R37C NP_005227.1
XM_011522424.2 84 Missense Mutation CGC,TGC R37C XP_011520726.1
XM_011522427.1 84 Intron XP_011520729.1
XM_017023043.1 84 UTR 5 XP_016878532.1

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