Product Details

SNP ID
rs149552198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:53439121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGGAAACTATGTATCTTTAACT[A/G]GAATCCTGAAATGTTCAGAGCAGAG
Phenotype
MIM: 180203
Polymorphism
A/G, 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_001323608.1 483 Missense Mutation AGA,GGA R116G NP_001310537.1
NM_001323609.1 483 Missense Mutation AGA,GGA R116G NP_001310538.1
NM_001323610.1 483 Missense Mutation AGA,GGA R116G NP_001310539.1
NM_001323611.1 483 Missense Mutation AGA,GGA R42G NP_001310540.1
NM_005611.3 483 Missense Mutation AGA,GGA R116G NP_005602.3
XM_011523253.2 483 Intron XP_011521555.1
XM_017023513.1 483 Intron XP_016879002.1

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