Product Details

SNP ID
rs3916900
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45350765 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCAGCCGGGTGAGTGTTGATCAGGT[C/T]GGCAAAGAGCCCTGACATCAGCAGA
Phenotype
MIM: 126340 MIM: 601334
Polymorphism
C/T, Transition 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 3176 Intron NP_000391.1
NM_001130867.1 3176 Intron NP_001124339.1
XM_011526611.2 3176 UTR 3 XP_011524913.1
XM_017026467.1 3176 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 3176 Intron NP_803136.2

View Full Product Details