Product Details

SNP ID
rs143140054
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127259331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGCCAAATTCCCCAGCCACCA[C/T]CTCCTCCTCGGCATCCAGGTCAGTG
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 2256 Missense Mutation ATG,GTG M728V NP_000113.1
NM_001303416.1 2256 Missense Mutation ATG,GTG M664V NP_001290345.1
NM_001303418.1 2256 Missense Mutation ATG,GTG M664V NP_001290347.1
XM_011510794.1 2256 Missense Mutation ATG,GTG M734V XP_011509096.1
XM_011510795.1 2256 Missense Mutation ATG,GTG M582V XP_011509097.1
XM_017003583.1 2256 Missense Mutation ATG,GTG M576V XP_016859072.1

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