Product Details

SNP ID
rs148791570
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:13922148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACACACAAGGTGGTGTTATATTT[A/G]CGACAAGTAGGATACTTGTGGTTGA
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_005236.2 300 Missense Mutation ACG,GCG T109A NP_005227.1
XM_011522424.2 300 Missense Mutation ACG,GCG T109A XP_011520726.1
XM_011522427.1 300 Intron XP_011520729.1
XM_017023043.1 300 UTR 5 XP_016878532.1

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