Product Details

SNP ID
rs199701146
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:53434767 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGCCGAGGCCTGGGACAGCTAC[C/T]GCAGCATGAGCGAAAGCTACACGCT
Phenotype
MIM: 180203
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
RBL2 PubMed Links

Gene Details

Gene
RBL2
Gene Name
RB transcriptional corepressor like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323608.1 348 Missense Mutation CGC,TGC R71C NP_001310537.1
NM_001323609.1 348 Missense Mutation CGC,TGC R71C NP_001310538.1
NM_001323610.1 348 Missense Mutation CGC,TGC R71C NP_001310539.1
NM_001323611.1 348 Intron NP_001310540.1
NM_005611.3 348 Missense Mutation CGC,TGC R71C NP_005602.3
XM_011523253.2 348 Intron XP_011521555.1
XM_017023513.1 348 Intron XP_016879002.1

View Full Product Details