Product Details

SNP ID
rs3916899
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45350787 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCGGCAAAGAGCCCTGACATCAG[A/C]AGAATCCACAGCCCACCCCACCCCC
Phenotype
MIM: 126340 MIM: 601334
Polymorphism
A/C, 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 3154 Intron NP_000391.1
NM_001130867.1 3154 Intron NP_001124339.1
XM_011526611.2 3154 UTR 3 XP_011524913.1
XM_017026467.1 3154 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 3154 Intron NP_803136.2

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