Product Details

SNP ID
rs149233851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12954497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTTCACAATCATCTGTGGCATC[C/T]TGGCCATGCACTCTGCGATGTGCTG
Phenotype
MIM: 605162 MIM: 600061
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GADD45GIP1 PubMed Links

Gene Details

Gene
GADD45GIP1
Gene Name
GADD45G interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052850.3 422 Missense Mutation AAG,AGG K127R NP_443082.2
Gene
RAD23A
Gene Name
RAD23 homolog A, nucleotide excision repair protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270362.1 422 Intron NP_001257291.1
NM_001270363.1 422 Intron NP_001257292.1
NM_005053.3 422 Intron NP_005044.1

View Full Product Details