Product Details

SNP ID
rs140023882
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127257706 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGTCGGCCCCAGACATAGAACTCA[C/T]GGTGCCAAAGCGCCGAGATGCCTGC
Phenotype
MIM: 133510
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERCC3 PubMed Links

Gene Details

Gene
ERCC3
Gene Name
ERCC excision repair 3, TFIIH core complex helicase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000122.1 2313 Missense Mutation NP_000113.1
NM_001303416.1 2313 Missense Mutation NP_001290345.1
NM_001303418.1 2313 Missense Mutation NP_001290347.1
XM_011510794.1 2313 Missense Mutation XP_011509096.1
XM_011510795.1 2313 Missense Mutation XP_011509097.1
XM_017003583.1 2313 Missense Mutation XP_016859072.1

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