Product Details

SNP ID
rs147499527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127257611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTAAGCATCATTTCCTAAAGCG[C/T]TTGAAGAGCGGGTGTACATGTTTGC
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 2408 Silent Mutation AAA,AAG K778K NP_000113.1
NM_001303416.1 2408 Silent Mutation AAA,AAG K714K NP_001290345.1
NM_001303418.1 2408 Silent Mutation AAA,AAG K714K NP_001290347.1
XM_011510794.1 2408 Silent Mutation AAA,AAG K784K XP_011509096.1
XM_011510795.1 2408 Silent Mutation AAA,AAG K632K XP_011509097.1
XM_017003583.1 2408 Silent Mutation AAA,AAG K626K XP_016859072.1

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