Product Details

SNP ID
rs34004521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45380296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCATCCCACATGCAAATCCGCTG[C/T]CTGTCTCTATCCTCCCACCCCTTCC
Phenotype
MIM: 126340 MIM: 607463
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
There are no transcripts associated with this gene.

Gene
PPP1R13L
Gene Name
protein phosphatase 1 regulatory subunit 13 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142502.1 Intron NP_001135974.1
NM_006663.3 Intron NP_006654.2
XM_017026177.1 Intron XP_016881666.1
XM_017026178.1 Intron XP_016881667.1
XM_017026179.1 Intron XP_016881668.1

View Full Product Details