Product Details

SNP ID
rs9332075
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:48490223 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTACTACAGTCAGATGGTTTATG[C/G]AAAACCTGAAGCAGAATTCTTCTAA
Phenotype
MIM: 614041 MIM: 603524
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
RB1 PubMed Links

Gene Details

Gene
RB1
Gene Name
RB transcriptional corepressor 1
There are no transcripts associated with this gene.

Gene
RCBTB2
Gene Name
RCC1 and BTB domain containing protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001268.3 1812 Missense Mutation TCC,TGC S515C NP_001259.1
NM_001286830.1 1812 Missense Mutation TCC,TGC S520C NP_001273759.1
NM_001286831.1 1812 Missense Mutation TCC,TGC S491C NP_001273760.1
NM_001286832.1 1812 Missense Mutation TCC,TGC S241C NP_001273761.1
XM_005266242.2 1812 Missense Mutation TCC,TGC S515C XP_005266299.1
XM_005266244.2 1812 Missense Mutation TCC,TGC S491C XP_005266301.1
XM_006719759.3 1812 Missense Mutation TCC,TGC S515C XP_006719822.1
XM_011534894.2 1812 Missense Mutation TCC,TGC S520C XP_011533196.1
XM_011534895.1 1812 Missense Mutation TCC,TGC S241C XP_011533197.1
XM_017020369.1 1812 Missense Mutation TCC,TGC S525C XP_016875858.1
XM_017020370.1 1812 Missense Mutation TCC,TGC S525C XP_016875859.1
XM_017020371.1 1812 Missense Mutation TCC,TGC S520C XP_016875860.1
XM_017020372.1 1812 Missense Mutation TCC,TGC S520C XP_016875861.1
XM_017020373.1 1812 Missense Mutation TCC,TGC S519C XP_016875862.1
XM_017020374.1 1812 Intron XP_016875863.1
XM_017020375.1 1812 Intron XP_016875864.1
XM_017020376.1 1812 Intron XP_016875865.1
XM_017020377.1 1812 Intron XP_016875866.1
XM_017020378.1 1812 Missense Mutation TCC,TGC S241C XP_016875867.1
XM_017020379.1 1812 Missense Mutation TCC,TGC S241C XP_016875868.1

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