Product Details

SNP ID
rs55761944
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:13922064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCAATCAGCTGAAGATAGAAGGA[G/T]TTGAACACCTCCCTCGCCGTGTAAC
Phenotype
MIM: 133520
Polymorphism
G/T, Transversion 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_005236.2 216 Missense Mutation GTT,TTT V81F NP_005227.1
XM_011522424.2 216 Missense Mutation GTT,TTT V81F XP_011520726.1
XM_011522427.1 216 Intron XP_011520729.1
XM_017023043.1 216 UTR 5 XP_016878532.1

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