Product Details

SNP ID
rs3916891
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45351458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATCATCTCCTGGCCCCCCCTTGC[C/G]TCTGGGTACCTGGTGGATAGCTGCC
Phenotype
MIM: 126340 MIM: 601334
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ERCC2 PubMed Links

Gene Details

Gene
ERCC2
Gene Name
ERCC excision repair 2, TFIIH core complex helicase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000400.3 2483 UTR 3 NP_000391.1
NM_001130867.1 2483 Intron NP_001124339.1
XM_011526611.2 2483 UTR 3 XP_011524913.1
XM_017026467.1 2483 UTR 3 XP_016881956.1
Gene
KLC3
Gene Name
kinesin light chain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_177417.2 2483 UTR 3 NP_803136.2

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