Product Details

SNP ID
rs3136056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:13922075 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGAAGATAGAAGGAGTTGAACACCT[C/T]CCTCGCCGTGTAACAAATGAAATCA
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_005236.2 227 Silent Mutation CTC,CTT L84L NP_005227.1
XM_011522424.2 227 Silent Mutation CTC,CTT L84L XP_011520726.1
XM_011522427.1 227 Intron XP_011520729.1
XM_017023043.1 227 UTR 5 XP_016878532.1

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